Transcript #00000001

Transcript name transcript variant A
Gene name EFHC1 (EF-hand domain containing 1)
Chromosome 6
Transcript - NCBI ID NM_018100.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_060570.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

53 entries on 1 page. Showing entries 1 - 53.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.475C>G r.(?) p.(Arg159Gly)
-?/. - c.475C>T r.(?) p.(Arg159Trp)
-?/. - c.475C>T r.(?) p.(Arg159Trp)
-?/. - c.475C>T r.(?) p.(Arg159Trp)
-?/. - c.475C>T r.(?) p.(Arg159Trp)
-?/. - c.475C>T r.(?) p.(Arg159Trp)
-?/. - c.475C>T r.(?) p.(Arg159Trp)
-?/. - c.475C>T r.(?) p.(Arg159Trp)
-?/. - c.475C>T r.(?) p.(Arg159Trp)
-?/. - c.475C>T r.(?) p.(Arg159Trp)
-?/. - c.475C>T r.(?) p.(Arg159Trp)
-?/. - c.475C>T r.(?) p.(Arg159Trp)
-?/. - c.475C>T r.(?) p.(Arg159Trp)
-?/. - c.475C>T r.(?) p.(Arg159Trp)
-?/. - c.475C>T r.(?) p.(Arg159Trp)
-?/. - c.475C>T r.(?) p.(Arg159Trp)
-?/. - c.475C>T r.(?) p.(Arg159Trp)
-?/. - c.475C>T r.(?) p.(Arg159Trp)
-?/. - c.545G>A r.(?) p.(Arg182His)
-?/. - c.545G>A r.(?) p.(Arg182His)
-?/. - c.545G>A r.(?) p.(Arg182His)
-?/. - c.545G>A r.(?) p.(Arg182His)
-?/. - c.545G>A r.(?) p.(Arg182His)
?/. - c.662G>A r.(?) p.(Arg221His)
+?/. - c.685T>C r.(?) p.(Phe229Leu)
+?/. - c.685T>C r.(?) p.(Phe229Leu)
+?/. - c.685T>C r.(?) p.(Phe229Leu)
?/. - c.887G>A r.(?) p.(Arg296His)
?/. - c.887G>A r.(?) p.(Arg296His)
?/. - c.896A>G r.(?) p.(Lys299Arg)
-?/. - c.1343T>C r.(?) p.(Met448Thr)
-?/. - c.1343T>C r.(?) p.(Met448Thr)
-?/. - c.1343T>C r.(?) p.(Met448Thr)
-?/. - c.1343T>C r.(?) p.(Met448Thr)
-?/. - c.1343T>C r.(?) p.(Met448Thr)
-?/. - c.1343T>C r.(?) p.(Met448Thr)
-?/. - c.1343T>C r.(?) p.(Met448Thr)
-?/. - c.1343T>C r.(?) p.(Met448Thr)
?/. - c.1765G>A r.(?) p.(Glu589Lys)
?/. - c.1820A>G r.(?) p.(Asn607Ser)
-?/. - c.1855A>C r.(?) p.(Ile619Leu)
-?/. - c.1855A>C r.(?) p.(Ile619Leu)
-?/. - c.1855A>C r.(?) p.(Ile619Leu)
-?/. - c.1855A>C r.(?) p.(Ile619Leu)
-?/. - c.1855A>C r.(?) p.(Ile619Leu)
-?/. - c.1855A>C r.(?) p.(Ile619Leu)
-?/. - c.1855A>C r.(?) p.(Ile619Leu)
-?/. - c.1855A>C r.(?) p.(Ile619Leu)
-?/. - c.1855A>C r.(?) p.(Ile619Leu)
-?/. - c.1855A>C r.(?) p.(Ile619Leu)
-?/. - c.1855A>C r.(?) p.(Ile619Leu)
-?/. - c.1855A>C r.(?) p.(Ile619Leu)
-?/. - c.1855A>C r.(?) p.(Ile619Leu)
Legend