Canonical Allele Identifier: CA2490655

Gene: MITF

Linked Data

• ClinVar Variation Id: 1197613
• ClinVar RCV Id: RCV001561492 ; RCV002570730
• dbSNP Id: rs560808156
• ExAC: 3:70014206 C / A
• gnomAD v2: 3-70014206-C-A
• gnomAD v3: 3-69965055-C-A
• gnomAD v4: 3-69965055-C-A
• MyVariant Identifiers: chr3:g.70014206C>A (hg19) ; chr3:g.69965055C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965055C>A , CM000665.2:g.69965055C>A	GRCh38
NC_000003.11:g.70014206C>A , CM000665.1:g.70014206C>A	GRCh37
NC_000003.10:g.70096896C>A	NCBI36
NG_011631.1:g.230574C>A , LRG_776:g.230574C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1322C>A	ENSP00000324443.5:p.Thr441Asn
ENST00000687384.1:c.1319C>A	ENSP00000510225.1:p.Thr440Asn
ENST00000689390.1:n.1544C>A
ENST00000693031.1:c.1295C>A	ENSP00000509845.1:p.Thr432Asn
ENST00000693549.1:c.*133C>A	ENSP00000509358.1:n.*133C>A
ENST00000314589.10:c.1322C>A	ENSP00000324443.5:p.Thr441Asn
ENST00000352241.9:c.1388C>A MANE Select	ENSP00000295600.8:p.Thr463Asn
ENST00000394351.9:c.1067C>A MANE Plus Clinical	ENSP00000377880.3:p.Thr356Asn
ENST00000448226.9:c.1367C>A	ENSP00000391803.3:p.Thr456Asn
ENST00000642352.1:c.1370C>A	ENSP00000494105.1:p.Thr457Asn
ENST00000314557.10:c.1049C>A	ENSP00000324246.6:p.Thr350Asn
ENST00000314589.9:c.1322C>A	ENSP00000324443.5:p.Thr441Asn
ENST00000328528.10:c.1367C>A	ENSP00000327867.6:p.Thr456Asn
ENST00000352241.8:c.1370C>A	ENSP00000295600.7:p.Thr457Asn
ENST00000394351.7:c.1067C>A	ENSP00000377880.3:p.Thr356Asn
ENST00000448226.6:c.1388C>A	ENSP00000391803.2:p.Thr463Asn
ENST00000472437.5:c.1214C>A	ENSP00000418845.1:p.Thr405Asn
ENST00000478490.5:c.*714C>A	ENSP00000433487.1:n.*714C>A
ENST00000531774.1:c.881C>A	ENSP00000435909.1:p.Thr294Asn
NM_000248.3:c.1067C>A , LRG_776t1:c.1067C>A	NP_000239.1:p.Thr356Asn
NM_001184967.1:c.1214C>A	NP_001171896.1:p.Thr405Asn
NM_006722.2:c.1367C>A	NP_006713.1:p.Thr456Asn
NM_198158.2:c.1049C>A	NP_937801.1:p.Thr350Asn
NM_198159.2:c.1370C>A	NP_937802.1:p.Thr457Asn
NM_198177.2:c.1322C>A	NP_937820.1:p.Thr441Asn
NM_198178.2:c.881C>A	NP_937821.2:p.Thr294Asn
XM_005264754.1:c.1388C>A	XP_005264811.1:p.Thr463Asn
XM_005264755.2:c.1340C>A	XP_005264812.1:p.Thr447Asn
XM_006713164.2:c.1232C>A	XP_006713227.1:p.Thr411Asn
XM_011533722.1:c.1385C>A	XP_011532024.1:p.Thr462Asn
XM_011533723.1:c.1337C>A	XP_011532025.1:p.Thr446Asn
XM_011533724.1:c.1232C>A	XP_011532026.1:p.Thr411Asn
XM_011533725.1:c.1220C>A	XP_011532027.1:p.Thr407Asn
XM_011533726.1:c.1202C>A	XP_011532028.1:p.Thr401Asn
NM_001354604.1:c.1388C>A	NP_001341533.1:p.Thr463Asn
NM_001354605.1:c.1385C>A	NP_001341534.1:p.Thr462Asn
NM_001354606.1:c.1367C>A	NP_001341535.1:p.Thr456Asn
NM_001354607.1:c.1319C>A	NP_001341536.1:p.Thr440Asn
NM_001354608.1:c.1214C>A	NP_001341537.1:p.Thr405Asn
NM_001184967.2:c.1214C>A	NP_001171896.1:p.Thr405Asn
NM_001354604.2:c.1388C>A MANE Select	NP_001341533.1:p.Thr463Asn
NM_001354605.2:c.1385C>A	NP_001341534.1:p.Thr462Asn
NM_001354606.2:c.1367C>A	NP_001341535.1:p.Thr456Asn
NM_001354607.2:c.1319C>A	NP_001341536.1:p.Thr440Asn
NM_001354608.2:c.1214C>A	NP_001341537.1:p.Thr405Asn
NM_198158.3:c.1049C>A	NP_937801.1:p.Thr350Asn
NM_198159.3:c.1370C>A	NP_937802.1:p.Thr457Asn
NM_198177.3:c.1322C>A	NP_937820.1:p.Thr441Asn
NM_198178.3:c.881C>A	NP_937821.2:p.Thr294Asn
NM_000248.4:c.1067C>A MANE Plus Clinical	NP_000239.1:p.Thr356Asn
NM_006722.3:c.1367C>A	NP_006713.1:p.Thr456Asn