Canonical Allele Identifier: CA2490656

Gene: MITF

Linked Data

• dbSNP Id: rs753959394
• ExAC: 3:70014210 G / T
• gnomAD v2: 3-70014210-G-T
• gnomAD v3: 3-69965059-G-T
• gnomAD v4: 3-69965059-G-T
• MyVariant Identifiers: chr3:g.70014210G>T (hg19) ; chr3:g.69965059G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965059G>T , CM000665.2:g.69965059G>T	GRCh38
NC_000003.11:g.70014210G>T , CM000665.1:g.70014210G>T	GRCh37
NC_000003.10:g.70096900G>T	NCBI36
NG_011631.1:g.230578G>T , LRG_776:g.230578G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1326G>T	ENSP00000324443.5:p.Gly442=
ENST00000687384.1:c.1323G>T	ENSP00000510225.1:p.Gly441=
ENST00000689390.1:n.1548G>T
ENST00000693031.1:c.1299G>T	ENSP00000509845.1:p.Gly433=
ENST00000693549.1:c.*137G>T	ENSP00000509358.1:n.*137G>T
ENST00000314589.10:c.1326G>T	ENSP00000324443.5:p.Gly442=
ENST00000352241.9:c.1392G>T MANE Select	ENSP00000295600.8:p.Gly464=
ENST00000394351.9:c.1071G>T MANE Plus Clinical	ENSP00000377880.3:p.Gly357=
ENST00000448226.9:c.1371G>T	ENSP00000391803.3:p.Gly457=
ENST00000642352.1:c.1374G>T	ENSP00000494105.1:p.Gly458=
ENST00000314557.10:c.1053G>T	ENSP00000324246.6:p.Gly351=
ENST00000314589.9:c.1326G>T	ENSP00000324443.5:p.Gly442=
ENST00000328528.10:c.1371G>T	ENSP00000327867.6:p.Gly457=
ENST00000352241.8:c.1374G>T	ENSP00000295600.7:p.Gly458=
ENST00000394351.7:c.1071G>T	ENSP00000377880.3:p.Gly357=
ENST00000448226.6:c.1392G>T	ENSP00000391803.2:p.Gly464=
ENST00000472437.5:c.1218G>T	ENSP00000418845.1:p.Gly406=
ENST00000478490.5:c.*718G>T	ENSP00000433487.1:n.*718G>T
ENST00000531774.1:c.885G>T	ENSP00000435909.1:p.Gly295=
NM_000248.3:c.1071G>T , LRG_776t1:c.1071G>T	NP_000239.1:p.Gly357=
NM_001184967.1:c.1218G>T	NP_001171896.1:p.Gly406=
NM_006722.2:c.1371G>T	NP_006713.1:p.Gly457=
NM_198158.2:c.1053G>T	NP_937801.1:p.Gly351=
NM_198159.2:c.1374G>T	NP_937802.1:p.Gly458=
NM_198177.2:c.1326G>T	NP_937820.1:p.Gly442=
NM_198178.2:c.885G>T	NP_937821.2:p.Gly295=
XM_005264754.1:c.1392G>T	XP_005264811.1:p.Gly464=
XM_005264755.2:c.1344G>T	XP_005264812.1:p.Gly448=
XM_006713164.2:c.1236G>T	XP_006713227.1:p.Gly412=
XM_011533722.1:c.1389G>T	XP_011532024.1:p.Gly463=
XM_011533723.1:c.1341G>T	XP_011532025.1:p.Gly447=
XM_011533724.1:c.1236G>T	XP_011532026.1:p.Gly412=
XM_011533725.1:c.1224G>T	XP_011532027.1:p.Gly408=
XM_011533726.1:c.1206G>T	XP_011532028.1:p.Gly402=
NM_001354604.1:c.1392G>T	NP_001341533.1:p.Gly464=
NM_001354605.1:c.1389G>T	NP_001341534.1:p.Gly463=
NM_001354606.1:c.1371G>T	NP_001341535.1:p.Gly457=
NM_001354607.1:c.1323G>T	NP_001341536.1:p.Gly441=
NM_001354608.1:c.1218G>T	NP_001341537.1:p.Gly406=
NM_001184967.2:c.1218G>T	NP_001171896.1:p.Gly406=
NM_001354604.2:c.1392G>T MANE Select	NP_001341533.1:p.Gly464=
NM_001354605.2:c.1389G>T	NP_001341534.1:p.Gly463=
NM_001354606.2:c.1371G>T	NP_001341535.1:p.Gly457=
NM_001354607.2:c.1323G>T	NP_001341536.1:p.Gly441=
NM_001354608.2:c.1218G>T	NP_001341537.1:p.Gly406=
NM_198158.3:c.1053G>T	NP_937801.1:p.Gly351=
NM_198159.3:c.1374G>T	NP_937802.1:p.Gly458=
NM_198177.3:c.1326G>T	NP_937820.1:p.Gly442=
NM_198178.3:c.885G>T	NP_937821.2:p.Gly295=
NM_000248.4:c.1071G>T MANE Plus Clinical	NP_000239.1:p.Gly357=
NM_006722.3:c.1371G>T	NP_006713.1:p.Gly457=