Transcript #00007160

Transcript name ATP-binding cassette, sub-family B (MDR/TAP), member 4, transcript variant A
Gene name ABCB4 (ATP binding cassette subfamily B member 4)
Chromosome 7
Transcript - NCBI ID NM_000443.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000434.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

72 entries on 1 page. Showing entries 1 - 72.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-6-4T>C r.spl? p.?
./. - c.-1G>A r.(=) p.(=)
./. - c.80+114G>C r.(=) p.(=)
./. - c.80+137A>T r.(=) p.(=)
./. - c.81-16A>G r.(=) p.(=)
./. - c.135+171A>G r.(=) p.(=)
./. - c.136-81del r.(=) p.(=)
./. - c.136-74C>T r.(=) p.(=)
./. - c.140G>A r.(?) p.(Arg47Gln)
./. - c.147C>T r.(=) p.(=)
./. - c.175C>T r.(=) p.(=)
./. - c.217C>G r.(?) p.(Leu73Val)
./. - c.287-61C>T r.(=) p.(=)
./. - c.344+113A>G r.(=) p.(=)
./. - c.345-50_345-46del r.(=) p.(=)
./. - c.456G>A r.(=) p.(=)
./. - c.459T>C r.(=) p.(=)
./. - c.504C>T r.(=) p.(=)
./. - c.523A>G r.(?) p.(Thr175Ala)
./. - c.536+11T>C r.(=) p.(=)
./. - c.537-44C>A r.(=) p.(=)
./. - c.708G>A r.(=) p.(=)
./. - c.709-146G>A r.(=) p.(=)
./. - c.711A>T r.(=) p.(=)
./. - c.805T>C r.(?) p.(Phe269Leu)
./. - c.833+6G>A r.(=) p.(=)
./. - c.834-66G>T r.(=) p.(=)
./. - c.1005+98A>G r.(=) p.(=)
./. - c.1006-128A>G r.(=) p.(=)
./. - c.1006-117del r.(=) p.(=)
./. - c.1006-117dup r.(=) p.(=)
./. - c.1231-81del r.(=) p.(=)
./. - c.1231-70A>G r.(=) p.(=)
./. - c.1314G>A r.(=) p.(=)
./. - c.1356+26A>G r.(=) p.(=)
./. - c.1357-40A>G r.(=) p.(=)
./. - c.1584G>C r.(?) p.(Glu528Asp)
./. - c.1769G>A r.(?) p.(Arg590Gln)
./. - c.1894-33_1894-32insACACACACAC r.(=) p.(=)
./. - c.1894-32_1894-31dup r.(=) p.(=)
./. - c.1894-32_1894-29dup r.(=) p.(=)
./. - c.1894-32_1894-27dup r.(=) p.(=)
./. - c.1894-32_1894-25del r.(=) p.(=)
./. - c.1894-32_1894-25dup r.(=) p.(=)
./. - c.1894-23T>C r.(=) p.(=)
./. - c.1952C>A r.(?) p.(Thr651Asn)
./. - c.1954A>G r.(?) p.(Arg652Gly)
./. - c.2064+55A>G r.(=) p.(=)
./. - c.2144C>T r.(?) p.(Thr715Ile)
./. - c.2211G>A r.(=) p.(=)
./. - c.2211+16C>T r.(=) p.(=)
./. - c.2211+72T>C r.(=) p.(=)
./. - c.2317-116T>C r.(=) p.(=)
./. - c.2325G>C r.(=) p.(=)
./. - c.2363G>A r.(?) p.(Arg788Gln)
./. - c.2394+96T>C r.(=) p.(=)
./. - c.2394+139A>C r.(=) p.(=)
./. - c.2395-19C>T r.(=) p.(=)
./. - c.2478+40A>G r.(=) p.(=)
./. - c.2479-66del r.(=) p.(=)
./. - c.2682+1G>A r.spl? p.?
./. - c.2682+20A>T r.(=) p.(=)
./. - c.2682+81A>C r.(=) p.(=)
./. - c.2683-29T>G r.(=) p.(=)
./. - c.2784-12T>C r.(=) p.(=)
./. - c.2924+65T>A r.(=) p.(=)
./. - c.2952A>G r.(=) p.(=)
./. - c.3082-119C>T r.(=) p.(=)
./. - c.3280-91_3280-90insATG r.(=) p.(=)
./. - c.3486+30A>G r.(=) p.(=)
./. - c.3487-16T>C r.(=) p.(=)
./. - c.3634-72T>C r.(=) p.(=)
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