Canonical Allele Identifier: CA2490692

Gene: MITF

Linked Data

• ClinVar Variation Id: 900478
• ClinVar RCV Id: RCV001145711 ; RCV001145712 ; RCV002557119 ; RCV003130165 ; RCV003963084
• dbSNP Id: rs548265796
• ExAC: 3:70014335 G / A
• gnomAD v2: 3-70014335-G-A
• gnomAD v3: 3-69965184-G-A
• gnomAD v4: 3-69965184-G-A
• MyVariant Identifiers: chr3:g.70014335G>A (hg19) ; chr3:g.69965184G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965184G>A , CM000665.2:g.69965184G>A	GRCh38
NC_000003.11:g.70014335G>A , CM000665.1:g.70014335G>A	GRCh37
NC_000003.10:g.70097025G>A	NCBI36
NG_011631.1:g.230703G>A , LRG_776:g.230703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1451G>A	ENSP00000324443.5:p.Gly484Glu
ENST00000687384.1:c.1448G>A	ENSP00000510225.1:p.Gly483Glu
ENST00000689390.1:n.1673G>A
ENST00000693031.1:c.1424G>A	ENSP00000509845.1:p.Gly475Glu
ENST00000693549.1:c.*262G>A	ENSP00000509358.1:n.*262G>A
ENST00000314589.10:c.1451G>A	ENSP00000324443.5:p.Gly484Glu
ENST00000352241.9:c.1517G>A MANE Select	ENSP00000295600.8:p.Gly506Glu
ENST00000394351.9:c.1196G>A MANE Plus Clinical	ENSP00000377880.3:p.Gly399Glu
ENST00000448226.9:c.1496G>A	ENSP00000391803.3:p.Gly499Glu
ENST00000642352.1:c.1499G>A	ENSP00000494105.1:p.Gly500Glu
ENST00000314557.10:c.1178G>A	ENSP00000324246.6:p.Gly393Glu
ENST00000314589.9:c.1451G>A	ENSP00000324443.5:p.Gly484Glu
ENST00000328528.10:c.1496G>A	ENSP00000327867.6:p.Gly499Glu
ENST00000352241.8:c.1499G>A	ENSP00000295600.7:p.Gly500Glu
ENST00000394351.7:c.1196G>A	ENSP00000377880.3:p.Gly399Glu
ENST00000448226.6:c.1517G>A	ENSP00000391803.2:p.Gly506Glu
ENST00000472437.5:c.1343G>A	ENSP00000418845.1:p.Gly448Glu
ENST00000478490.5:c.*843G>A	ENSP00000433487.1:n.*843G>A
ENST00000531774.1:c.1010G>A	ENSP00000435909.1:p.Gly337Glu
NM_000248.3:c.1196G>A , LRG_776t1:c.1196G>A	NP_000239.1:p.Gly399Glu
NM_001184967.1:c.1343G>A	NP_001171896.1:p.Gly448Glu
NM_006722.2:c.1496G>A	NP_006713.1:p.Gly499Glu
NM_198158.2:c.1178G>A	NP_937801.1:p.Gly393Glu
NM_198159.2:c.1499G>A	NP_937802.1:p.Gly500Glu
NM_198177.2:c.1451G>A	NP_937820.1:p.Gly484Glu
NM_198178.2:c.1010G>A	NP_937821.2:p.Gly337Glu
XM_005264754.1:c.1517G>A	XP_005264811.1:p.Gly506Glu
XM_005264755.2:c.1469G>A	XP_005264812.1:p.Gly490Glu
XM_006713164.2:c.1361G>A	XP_006713227.1:p.Gly454Glu
XM_011533722.1:c.1514G>A	XP_011532024.1:p.Gly505Glu
XM_011533723.1:c.1466G>A	XP_011532025.1:p.Gly489Glu
XM_011533724.1:c.1361G>A	XP_011532026.1:p.Gly454Glu
XM_011533725.1:c.1349G>A	XP_011532027.1:p.Gly450Glu
XM_011533726.1:c.1331G>A	XP_011532028.1:p.Gly444Glu
NM_001354604.1:c.1517G>A	NP_001341533.1:p.Gly506Glu
NM_001354605.1:c.1514G>A	NP_001341534.1:p.Gly505Glu
NM_001354606.1:c.1496G>A	NP_001341535.1:p.Gly499Glu
NM_001354607.1:c.1448G>A	NP_001341536.1:p.Gly483Glu
NM_001354608.1:c.1343G>A	NP_001341537.1:p.Gly448Glu
NM_001184967.2:c.1343G>A	NP_001171896.1:p.Gly448Glu
NM_001354604.2:c.1517G>A MANE Select	NP_001341533.1:p.Gly506Glu
NM_001354605.2:c.1514G>A	NP_001341534.1:p.Gly505Glu
NM_001354606.2:c.1496G>A	NP_001341535.1:p.Gly499Glu
NM_001354607.2:c.1448G>A	NP_001341536.1:p.Gly483Glu
NM_001354608.2:c.1343G>A	NP_001341537.1:p.Gly448Glu
NM_198158.3:c.1178G>A	NP_937801.1:p.Gly393Glu
NM_198159.3:c.1499G>A	NP_937802.1:p.Gly500Glu
NM_198177.3:c.1451G>A	NP_937820.1:p.Gly484Glu
NM_198178.3:c.1010G>A	NP_937821.2:p.Gly337Glu
NM_000248.4:c.1196G>A MANE Plus Clinical	NP_000239.1:p.Gly399Glu
NM_006722.3:c.1496G>A	NP_006713.1:p.Gly499Glu