Canonical Allele Identifier: CA2490662
Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 2946910
ClinVar RCV Id: RCV003809148
dbSNP Id: rs745382803
gnomAD v2: 3-70014227-C-A
gnomAD v4: 3-69965076-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965076C>A , CM000665.2:g.69965076C>A GRCh38
NC_000003.11:g.70014227C>A , CM000665.1:g.70014227C>A GRCh37
NC_000003.10:g.70096917C>A NCBI36
NG_011631.1:g.230595C>A , LRG_776:g.230595C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1343C>A ENSP00000324443.5:p.Ala448Asp
ENST00000687384.1:c.1340C>A ENSP00000510225.1:p.Ala447Asp
ENST00000689390.1:n.1565C>A
ENST00000693031.1:c.1316C>A ENSP00000509845.1:p.Ala439Asp
ENST00000693549.1:c.*154C>A ENSP00000509358.1:n.*154C>A
ENST00000314589.10:c.1343C>A ENSP00000324443.5:p.Ala448Asp
ENST00000352241.9:c.1409C>A MANE Select ENSP00000295600.8:p.Ala470Asp
ENST00000394351.9:c.1088C>A MANE Plus Clinical ENSP00000377880.3:p.Ala363Asp
ENST00000448226.9:c.1388C>A ENSP00000391803.3:p.Ala463Asp
ENST00000642352.1:c.1391C>A ENSP00000494105.1:p.Ala464Asp
ENST00000314557.10:c.1070C>A ENSP00000324246.6:p.Ala357Asp
ENST00000314589.9:c.1343C>A ENSP00000324443.5:p.Ala448Asp
ENST00000328528.10:c.1388C>A ENSP00000327867.6:p.Ala463Asp
ENST00000352241.8:c.1391C>A ENSP00000295600.7:p.Ala464Asp
ENST00000394351.7:c.1088C>A ENSP00000377880.3:p.Ala363Asp
ENST00000448226.6:c.1409C>A ENSP00000391803.2:p.Ala470Asp
ENST00000472437.5:c.1235C>A ENSP00000418845.1:p.Ala412Asp
ENST00000478490.5:c.*735C>A ENSP00000433487.1:n.*735C>A
ENST00000531774.1:c.902C>A ENSP00000435909.1:p.Ala301Asp
NM_000248.3:c.1088C>A , LRG_776t1:c.1088C>A NP_000239.1:p.Ala363Asp
NM_001184967.1:c.1235C>A NP_001171896.1:p.Ala412Asp
NM_006722.2:c.1388C>A NP_006713.1:p.Ala463Asp
NM_198158.2:c.1070C>A NP_937801.1:p.Ala357Asp
NM_198159.2:c.1391C>A NP_937802.1:p.Ala464Asp
NM_198177.2:c.1343C>A NP_937820.1:p.Ala448Asp
NM_198178.2:c.902C>A NP_937821.2:p.Ala301Asp
XM_005264754.1:c.1409C>A XP_005264811.1:p.Ala470Asp
XM_005264755.2:c.1361C>A XP_005264812.1:p.Ala454Asp
XM_006713164.2:c.1253C>A XP_006713227.1:p.Ala418Asp
XM_011533722.1:c.1406C>A XP_011532024.1:p.Ala469Asp
XM_011533723.1:c.1358C>A XP_011532025.1:p.Ala453Asp
XM_011533724.1:c.1253C>A XP_011532026.1:p.Ala418Asp
XM_011533725.1:c.1241C>A XP_011532027.1:p.Ala414Asp
XM_011533726.1:c.1223C>A XP_011532028.1:p.Ala408Asp
NM_001354604.1:c.1409C>A NP_001341533.1:p.Ala470Asp
NM_001354605.1:c.1406C>A NP_001341534.1:p.Ala469Asp
NM_001354606.1:c.1388C>A NP_001341535.1:p.Ala463Asp
NM_001354607.1:c.1340C>A NP_001341536.1:p.Ala447Asp
NM_001354608.1:c.1235C>A NP_001341537.1:p.Ala412Asp
NM_001184967.2:c.1235C>A NP_001171896.1:p.Ala412Asp
NM_001354604.2:c.1409C>A MANE Select NP_001341533.1:p.Ala470Asp
NM_001354605.2:c.1406C>A NP_001341534.1:p.Ala469Asp
NM_001354606.2:c.1388C>A NP_001341535.1:p.Ala463Asp
NM_001354607.2:c.1340C>A NP_001341536.1:p.Ala447Asp
NM_001354608.2:c.1235C>A NP_001341537.1:p.Ala412Asp
NM_198158.3:c.1070C>A NP_937801.1:p.Ala357Asp
NM_198159.3:c.1391C>A NP_937802.1:p.Ala464Asp
NM_198177.3:c.1343C>A NP_937820.1:p.Ala448Asp
NM_198178.3:c.902C>A NP_937821.2:p.Ala301Asp
NM_000248.4:c.1088C>A MANE Plus Clinical NP_000239.1:p.Ala363Asp
NM_006722.3:c.1388C>A NP_006713.1:p.Ala463Asp