Transcript #00011166

Transcript name ATP-binding cassette, sub-family G (WHITE), member 4, transcript variant 1
Gene name ABCG4 (ATP binding cassette subfamily G member 4)
Chromosome 11
Transcript - NCBI ID NM_022169.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_071452.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

33 entries on 1 page. Showing entries 1 - 33.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-12-44G>A r.(=) p.(=)
./. - c.44C>T r.(?) p.(Pro15Leu)
./. - c.239-651G>A r.(=) p.(=)
./. - c.239-308A>C r.(=) p.(=)
./. - c.239-240C>T r.(=) p.(=)
./. - c.239-143A>G r.(=) p.(=)
./. - c.304G>A r.(?) p.(Gly102Ser)
./. - c.334A>G r.(?) p.(Met112Val)
./. - c.357-39A>G r.(=) p.(=)
./. - c.534G>A r.(=) p.(=)
./. - c.541-37C>G r.(=) p.(=)
./. - c.687-70C>T r.(=) p.(=)
./. - c.687-66C>G r.(=) p.(=)
./. - c.699C>T r.(=) p.(=)
./. - c.925+94C>T r.(=) p.(=)
./. - c.926-94G>A r.(=) p.(=)
./. - c.926-37G>A r.(=) p.(=)
./. - c.975C>T r.(=) p.(=)
./. - c.1035C>G r.(?) p.(Asn345Lys)
./. - c.1035C>T r.(=) p.(=)
./. - c.1055C>T r.(?) p.(Pro352Leu)
./. - c.1069-131C>G r.(=) p.(=)
./. - c.1069-22C>T r.(=) p.(=)
./. - c.1069-14_1069-13insTTC r.spl? p.?
./. - c.1167+16G>A r.(=) p.(=)
./. - c.1167+101C>T r.(=) p.(=)
./. - c.1168-78G>A r.(=) p.(=)
./. - c.1179C>T r.(=) p.(=)
./. - c.1438-16C>T r.(=) p.(=)
./. - c.1596+34G>T r.(=) p.(=)
./. - c.1715+80G>A r.(=) p.(=)
./. - c.1794G>A r.(=) p.(=)
./. - c.*25_*26insC r.(=) p.(=)
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