Canonical Allele Identifier: CA434433692

Gene: MITF

Linked Data

• dbSNP Id: rs2107552349
• gnomAD v3: 3-69964996-C-A
• gnomAD v4: 3-69964996-C-A
• MyVariant Identifiers: chr3:g.70014147C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964996C>A , CM000665.2:g.69964996C>A	GRCh38
NC_000003.11:g.70014147C>A , CM000665.1:g.70014147C>A	GRCh37
NC_000003.10:g.70096837C>A	NCBI36
NG_011631.1:g.230515C>A , LRG_776:g.230515C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1263C>A	ENSP00000324443.5:p.Thr421=
ENST00000687384.1:c.1260C>A	ENSP00000510225.1:p.Thr420=
ENST00000689390.1:n.1485C>A
ENST00000693031.1:c.1236C>A	ENSP00000509845.1:p.Thr412=
ENST00000693549.1:c.*74C>A	ENSP00000509358.1:n.*74C>A
ENST00000314589.10:c.1263C>A	ENSP00000324443.5:p.Thr421=
ENST00000352241.9:c.1329C>A MANE Select	ENSP00000295600.8:p.Thr443=
ENST00000394351.9:c.1008C>A MANE Plus Clinical	ENSP00000377880.3:p.Thr336=
ENST00000448226.9:c.1308C>A	ENSP00000391803.3:p.Thr436=
ENST00000642352.1:c.1311C>A	ENSP00000494105.1:p.Thr437=
ENST00000314557.10:c.990C>A	ENSP00000324246.6:p.Thr330=
ENST00000314589.9:c.1263C>A	ENSP00000324443.5:p.Thr421=
ENST00000328528.10:c.1308C>A	ENSP00000327867.6:p.Thr436=
ENST00000352241.8:c.1311C>A	ENSP00000295600.7:p.Thr437=
ENST00000394351.7:c.1008C>A	ENSP00000377880.3:p.Thr336=
ENST00000448226.6:c.1329C>A	ENSP00000391803.2:p.Thr443=
ENST00000472437.5:c.1155C>A	ENSP00000418845.1:p.Thr385=
ENST00000478490.5:c.*655C>A	ENSP00000433487.1:n.*655C>A
ENST00000531774.1:c.822C>A	ENSP00000435909.1:p.Thr274=
NM_000248.3:c.1008C>A , LRG_776t1:c.1008C>A	NP_000239.1:p.Thr336=
NM_001184967.1:c.1155C>A	NP_001171896.1:p.Thr385=
NM_006722.2:c.1308C>A	NP_006713.1:p.Thr436=
NM_198158.2:c.990C>A	NP_937801.1:p.Thr330=
NM_198159.2:c.1311C>A	NP_937802.1:p.Thr437=
NM_198177.2:c.1263C>A	NP_937820.1:p.Thr421=
NM_198178.2:c.822C>A	NP_937821.2:p.Thr274=
XM_005264754.1:c.1329C>A	XP_005264811.1:p.Thr443=
XM_005264755.2:c.1281C>A	XP_005264812.1:p.Thr427=
XM_006713164.2:c.1173C>A	XP_006713227.1:p.Thr391=
XM_011533722.1:c.1326C>A	XP_011532024.1:p.Thr442=
XM_011533723.1:c.1278C>A	XP_011532025.1:p.Thr426=
XM_011533724.1:c.1173C>A	XP_011532026.1:p.Thr391=
XM_011533725.1:c.1161C>A	XP_011532027.1:p.Thr387=
XM_011533726.1:c.1143C>A	XP_011532028.1:p.Thr381=
NM_001354604.1:c.1329C>A	NP_001341533.1:p.Thr443=
NM_001354605.1:c.1326C>A	NP_001341534.1:p.Thr442=
NM_001354606.1:c.1308C>A	NP_001341535.1:p.Thr436=
NM_001354607.1:c.1260C>A	NP_001341536.1:p.Thr420=
NM_001354608.1:c.1155C>A	NP_001341537.1:p.Thr385=
NM_001184967.2:c.1155C>A	NP_001171896.1:p.Thr385=
NM_001354604.2:c.1329C>A MANE Select	NP_001341533.1:p.Thr443=
NM_001354605.2:c.1326C>A	NP_001341534.1:p.Thr442=
NM_001354606.2:c.1308C>A	NP_001341535.1:p.Thr436=
NM_001354607.2:c.1260C>A	NP_001341536.1:p.Thr420=
NM_001354608.2:c.1155C>A	NP_001341537.1:p.Thr385=
NM_198158.3:c.990C>A	NP_937801.1:p.Thr330=
NM_198159.3:c.1311C>A	NP_937802.1:p.Thr437=
NM_198177.3:c.1263C>A	NP_937820.1:p.Thr421=
NM_198178.3:c.822C>A	NP_937821.2:p.Thr274=
NM_000248.4:c.1008C>A MANE Plus Clinical	NP_000239.1:p.Thr336=
NM_006722.3:c.1308C>A	NP_006713.1:p.Thr436=