Canonical Allele Identifier: CA2490683

Gene: MITF

Linked Data

• ClinVar Variation Id: 2930024
• ClinVar RCV Id: RCV003787382
• dbSNP Id: rs142372494
• ExAC: 3:70014298 G / A
• gnomAD v2: 3-70014298-G-A
• gnomAD v3: 3-69965147-G-A
• gnomAD v4: 3-69965147-G-A
• MyVariant Identifiers: chr3:g.70014298G>A (hg19) ; chr3:g.69965147G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965147G>A , CM000665.2:g.69965147G>A	GRCh38
NC_000003.11:g.70014298G>A , CM000665.1:g.70014298G>A	GRCh37
NC_000003.10:g.70096988G>A	NCBI36
NG_011631.1:g.230666G>A , LRG_776:g.230666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1414G>A	ENSP00000324443.5:p.Gly472Ser
ENST00000687384.1:c.1411G>A	ENSP00000510225.1:p.Gly471Ser
ENST00000689390.1:n.1636G>A
ENST00000693031.1:c.1387G>A	ENSP00000509845.1:p.Gly463Ser
ENST00000693549.1:c.*225G>A	ENSP00000509358.1:n.*225G>A
ENST00000314589.10:c.1414G>A	ENSP00000324443.5:p.Gly472Ser
ENST00000352241.9:c.1480G>A MANE Select	ENSP00000295600.8:p.Gly494Ser
ENST00000394351.9:c.1159G>A MANE Plus Clinical	ENSP00000377880.3:p.Gly387Ser
ENST00000448226.9:c.1459G>A	ENSP00000391803.3:p.Gly487Ser
ENST00000642352.1:c.1462G>A	ENSP00000494105.1:p.Gly488Ser
ENST00000314557.10:c.1141G>A	ENSP00000324246.6:p.Gly381Ser
ENST00000314589.9:c.1414G>A	ENSP00000324443.5:p.Gly472Ser
ENST00000328528.10:c.1459G>A	ENSP00000327867.6:p.Gly487Ser
ENST00000352241.8:c.1462G>A	ENSP00000295600.7:p.Gly488Ser
ENST00000394351.7:c.1159G>A	ENSP00000377880.3:p.Gly387Ser
ENST00000448226.6:c.1480G>A	ENSP00000391803.2:p.Gly494Ser
ENST00000472437.5:c.1306G>A	ENSP00000418845.1:p.Gly436Ser
ENST00000478490.5:c.*806G>A	ENSP00000433487.1:n.*806G>A
ENST00000531774.1:c.973G>A	ENSP00000435909.1:p.Gly325Ser
NM_000248.3:c.1159G>A , LRG_776t1:c.1159G>A	NP_000239.1:p.Gly387Ser
NM_001184967.1:c.1306G>A	NP_001171896.1:p.Gly436Ser
NM_006722.2:c.1459G>A	NP_006713.1:p.Gly487Ser
NM_198158.2:c.1141G>A	NP_937801.1:p.Gly381Ser
NM_198159.2:c.1462G>A	NP_937802.1:p.Gly488Ser
NM_198177.2:c.1414G>A	NP_937820.1:p.Gly472Ser
NM_198178.2:c.973G>A	NP_937821.2:p.Gly325Ser
XM_005264754.1:c.1480G>A	XP_005264811.1:p.Gly494Ser
XM_005264755.2:c.1432G>A	XP_005264812.1:p.Gly478Ser
XM_006713164.2:c.1324G>A	XP_006713227.1:p.Gly442Ser
XM_011533722.1:c.1477G>A	XP_011532024.1:p.Gly493Ser
XM_011533723.1:c.1429G>A	XP_011532025.1:p.Gly477Ser
XM_011533724.1:c.1324G>A	XP_011532026.1:p.Gly442Ser
XM_011533725.1:c.1312G>A	XP_011532027.1:p.Gly438Ser
XM_011533726.1:c.1294G>A	XP_011532028.1:p.Gly432Ser
NM_001354604.1:c.1480G>A	NP_001341533.1:p.Gly494Ser
NM_001354605.1:c.1477G>A	NP_001341534.1:p.Gly493Ser
NM_001354606.1:c.1459G>A	NP_001341535.1:p.Gly487Ser
NM_001354607.1:c.1411G>A	NP_001341536.1:p.Gly471Ser
NM_001354608.1:c.1306G>A	NP_001341537.1:p.Gly436Ser
NM_001184967.2:c.1306G>A	NP_001171896.1:p.Gly436Ser
NM_001354604.2:c.1480G>A MANE Select	NP_001341533.1:p.Gly494Ser
NM_001354605.2:c.1477G>A	NP_001341534.1:p.Gly493Ser
NM_001354606.2:c.1459G>A	NP_001341535.1:p.Gly487Ser
NM_001354607.2:c.1411G>A	NP_001341536.1:p.Gly471Ser
NM_001354608.2:c.1306G>A	NP_001341537.1:p.Gly436Ser
NM_198158.3:c.1141G>A	NP_937801.1:p.Gly381Ser
NM_198159.3:c.1462G>A	NP_937802.1:p.Gly488Ser
NM_198177.3:c.1414G>A	NP_937820.1:p.Gly472Ser
NM_198178.3:c.973G>A	NP_937821.2:p.Gly325Ser
NM_000248.4:c.1159G>A MANE Plus Clinical	NP_000239.1:p.Gly387Ser
NM_006722.3:c.1459G>A	NP_006713.1:p.Gly487Ser