Canonical Allele Identifier: CA77003531

Gene: MITF

Linked Data

• ClinVar Variation Id: 452346
• ClinVar RCV Id: RCV000522973 ; RCV002528269
• dbSNP Id: rs1018390529
• gnomAD v2: 3-70014356-G-A
• gnomAD v4: 3-69965205-G-A
• MyVariant Identifiers: chr3:g.70014356G>A (hg19) ; chr3:g.69965205G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965205G>A , CM000665.2:g.69965205G>A	GRCh38
NC_000003.11:g.70014356G>A , CM000665.1:g.70014356G>A	GRCh37
NC_000003.10:g.70097046G>A	NCBI36
NG_011631.1:g.230724G>A , LRG_776:g.230724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1472G>A	ENSP00000324443.5:p.Arg491Gln
ENST00000687384.1:c.1469G>A	ENSP00000510225.1:p.Arg490Gln
ENST00000689390.1:n.1694G>A
ENST00000693031.1:c.1445G>A	ENSP00000509845.1:p.Arg482Gln
ENST00000693549.1:c.*283G>A	ENSP00000509358.1:n.*283G>A
ENST00000314589.10:c.1472G>A	ENSP00000324443.5:p.Arg491Gln
ENST00000352241.9:c.1538G>A MANE Select	ENSP00000295600.8:p.Arg513Gln
ENST00000394351.9:c.1217G>A MANE Plus Clinical	ENSP00000377880.3:p.Arg406Gln
ENST00000448226.9:c.1517G>A	ENSP00000391803.3:p.Arg506Gln
ENST00000642352.1:c.1520G>A	ENSP00000494105.1:p.Arg507Gln
ENST00000314557.10:c.1199G>A	ENSP00000324246.6:p.Arg400Gln
ENST00000314589.9:c.1472G>A	ENSP00000324443.5:p.Arg491Gln
ENST00000328528.10:c.1517G>A	ENSP00000327867.6:p.Arg506Gln
ENST00000352241.8:c.1520G>A	ENSP00000295600.7:p.Arg507Gln
ENST00000394351.7:c.1217G>A	ENSP00000377880.3:p.Arg406Gln
ENST00000448226.6:c.1538G>A	ENSP00000391803.2:p.Arg513Gln
ENST00000472437.5:c.1364G>A	ENSP00000418845.1:p.Arg455Gln
ENST00000478490.5:c.*864G>A	ENSP00000433487.1:n.*864G>A
ENST00000531774.1:c.1031G>A	ENSP00000435909.1:p.Arg344Gln
NM_000248.3:c.1217G>A , LRG_776t1:c.1217G>A	NP_000239.1:p.Arg406Gln
NM_001184967.1:c.1364G>A	NP_001171896.1:p.Arg455Gln
NM_006722.2:c.1517G>A	NP_006713.1:p.Arg506Gln
NM_198158.2:c.1199G>A	NP_937801.1:p.Arg400Gln
NM_198159.2:c.1520G>A	NP_937802.1:p.Arg507Gln
NM_198177.2:c.1472G>A	NP_937820.1:p.Arg491Gln
NM_198178.2:c.1031G>A	NP_937821.2:p.Arg344Gln
XM_005264754.1:c.1538G>A	XP_005264811.1:p.Arg513Gln
XM_005264755.2:c.1490G>A	XP_005264812.1:p.Arg497Gln
XM_006713164.2:c.1382G>A	XP_006713227.1:p.Arg461Gln
XM_011533722.1:c.1535G>A	XP_011532024.1:p.Arg512Gln
XM_011533723.1:c.1487G>A	XP_011532025.1:p.Arg496Gln
XM_011533724.1:c.1382G>A	XP_011532026.1:p.Arg461Gln
XM_011533725.1:c.1370G>A	XP_011532027.1:p.Arg457Gln
XM_011533726.1:c.1352G>A	XP_011532028.1:p.Arg451Gln
NM_001354604.1:c.1538G>A	NP_001341533.1:p.Arg513Gln
NM_001354605.1:c.1535G>A	NP_001341534.1:p.Arg512Gln
NM_001354606.1:c.1517G>A	NP_001341535.1:p.Arg506Gln
NM_001354607.1:c.1469G>A	NP_001341536.1:p.Arg490Gln
NM_001354608.1:c.1364G>A	NP_001341537.1:p.Arg455Gln
NM_001184967.2:c.1364G>A	NP_001171896.1:p.Arg455Gln
NM_001354604.2:c.1538G>A MANE Select	NP_001341533.1:p.Arg513Gln
NM_001354605.2:c.1535G>A	NP_001341534.1:p.Arg512Gln
NM_001354606.2:c.1517G>A	NP_001341535.1:p.Arg506Gln
NM_001354607.2:c.1469G>A	NP_001341536.1:p.Arg490Gln
NM_001354608.2:c.1364G>A	NP_001341537.1:p.Arg455Gln
NM_198158.3:c.1199G>A	NP_937801.1:p.Arg400Gln
NM_198159.3:c.1520G>A	NP_937802.1:p.Arg507Gln
NM_198177.3:c.1472G>A	NP_937820.1:p.Arg491Gln
NM_198178.3:c.1031G>A	NP_937821.2:p.Arg344Gln
NM_000248.4:c.1217G>A MANE Plus Clinical	NP_000239.1:p.Arg406Gln
NM_006722.3:c.1517G>A	NP_006713.1:p.Arg506Gln