Canonical Allele Identifier: CA77003528

Gene: MITF

Linked Data

• ClinVar Variation Id: 1973732
• ClinVar RCV Id: RCV003443077 ; RCV002765382
• dbSNP Id: rs756044021
• gnomAD v2: 3-70014295-G-C
• gnomAD v3: 3-69965144-G-C
• gnomAD v4: 3-69965144-G-C
• MyVariant Identifiers: chr3:g.70014295G>C (hg19) ; chr3:g.69965144G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965144G>C , CM000665.2:g.69965144G>C	GRCh38
NC_000003.11:g.70014295G>C , CM000665.1:g.70014295G>C	GRCh37
NC_000003.10:g.70096985G>C	NCBI36
NG_011631.1:g.230663G>C , LRG_776:g.230663G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1411G>C	ENSP00000324443.5:p.Val471Leu
ENST00000687384.1:c.1408G>C	ENSP00000510225.1:p.Val470Leu
ENST00000689390.1:n.1633G>C
ENST00000693031.1:c.1384G>C	ENSP00000509845.1:p.Val462Leu
ENST00000693549.1:c.*222G>C	ENSP00000509358.1:n.*222G>C
ENST00000314589.10:c.1411G>C	ENSP00000324443.5:p.Val471Leu
ENST00000352241.9:c.1477G>C MANE Select	ENSP00000295600.8:p.Val493Leu
ENST00000394351.9:c.1156G>C MANE Plus Clinical	ENSP00000377880.3:p.Val386Leu
ENST00000448226.9:c.1456G>C	ENSP00000391803.3:p.Val486Leu
ENST00000642352.1:c.1459G>C	ENSP00000494105.1:p.Val487Leu
ENST00000314557.10:c.1138G>C	ENSP00000324246.6:p.Val380Leu
ENST00000314589.9:c.1411G>C	ENSP00000324443.5:p.Val471Leu
ENST00000328528.10:c.1456G>C	ENSP00000327867.6:p.Val486Leu
ENST00000352241.8:c.1459G>C	ENSP00000295600.7:p.Val487Leu
ENST00000394351.7:c.1156G>C	ENSP00000377880.3:p.Val386Leu
ENST00000448226.6:c.1477G>C	ENSP00000391803.2:p.Val493Leu
ENST00000472437.5:c.1303G>C	ENSP00000418845.1:p.Val435Leu
ENST00000478490.5:c.*803G>C	ENSP00000433487.1:n.*803G>C
ENST00000531774.1:c.970G>C	ENSP00000435909.1:p.Val324Leu
NM_000248.3:c.1156G>C , LRG_776t1:c.1156G>C	NP_000239.1:p.Val386Leu
NM_001184967.1:c.1303G>C	NP_001171896.1:p.Val435Leu
NM_006722.2:c.1456G>C	NP_006713.1:p.Val486Leu
NM_198158.2:c.1138G>C	NP_937801.1:p.Val380Leu
NM_198159.2:c.1459G>C	NP_937802.1:p.Val487Leu
NM_198177.2:c.1411G>C	NP_937820.1:p.Val471Leu
NM_198178.2:c.970G>C	NP_937821.2:p.Val324Leu
XM_005264754.1:c.1477G>C	XP_005264811.1:p.Val493Leu
XM_005264755.2:c.1429G>C	XP_005264812.1:p.Val477Leu
XM_006713164.2:c.1321G>C	XP_006713227.1:p.Val441Leu
XM_011533722.1:c.1474G>C	XP_011532024.1:p.Val492Leu
XM_011533723.1:c.1426G>C	XP_011532025.1:p.Val476Leu
XM_011533724.1:c.1321G>C	XP_011532026.1:p.Val441Leu
XM_011533725.1:c.1309G>C	XP_011532027.1:p.Val437Leu
XM_011533726.1:c.1291G>C	XP_011532028.1:p.Val431Leu
NM_001354604.1:c.1477G>C	NP_001341533.1:p.Val493Leu
NM_001354605.1:c.1474G>C	NP_001341534.1:p.Val492Leu
NM_001354606.1:c.1456G>C	NP_001341535.1:p.Val486Leu
NM_001354607.1:c.1408G>C	NP_001341536.1:p.Val470Leu
NM_001354608.1:c.1303G>C	NP_001341537.1:p.Val435Leu
NM_001184967.2:c.1303G>C	NP_001171896.1:p.Val435Leu
NM_001354604.2:c.1477G>C MANE Select	NP_001341533.1:p.Val493Leu
NM_001354605.2:c.1474G>C	NP_001341534.1:p.Val492Leu
NM_001354606.2:c.1456G>C	NP_001341535.1:p.Val486Leu
NM_001354607.2:c.1408G>C	NP_001341536.1:p.Val470Leu
NM_001354608.2:c.1303G>C	NP_001341537.1:p.Val435Leu
NM_198158.3:c.1138G>C	NP_937801.1:p.Val380Leu
NM_198159.3:c.1459G>C	NP_937802.1:p.Val487Leu
NM_198177.3:c.1411G>C	NP_937820.1:p.Val471Leu
NM_198178.3:c.970G>C	NP_937821.2:p.Val324Leu
NM_000248.4:c.1156G>C MANE Plus Clinical	NP_000239.1:p.Val386Leu
NM_006722.3:c.1456G>C	NP_006713.1:p.Val486Leu