Canonical Allele Identifier: CA2490661

Gene: MITF

Linked Data

• dbSNP Id: rs781273207
• ExAC: 3:70014223 C / A
• gnomAD v2: 3-70014223-C-A
• gnomAD v4: 3-69965072-C-A
• COSMIC: COSM5892891 ; COSM5892892 ; COSM5892893 ; COSM5892894
• MyVariant Identifiers: chr3:g.70014223C>A (hg19) ; chr3:g.69965072C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965072C>A , CM000665.2:g.69965072C>A	GRCh38
NC_000003.11:g.70014223C>A , CM000665.1:g.70014223C>A	GRCh37
NC_000003.10:g.70096913C>A	NCBI36
NG_011631.1:g.230591C>A , LRG_776:g.230591C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1339C>A	ENSP00000324443.5:p.Gln447Lys
ENST00000687384.1:c.1336C>A	ENSP00000510225.1:p.Gln446Lys
ENST00000689390.1:n.1561C>A
ENST00000693031.1:c.1312C>A	ENSP00000509845.1:p.Gln438Lys
ENST00000693549.1:c.*150C>A	ENSP00000509358.1:n.*150C>A
ENST00000314589.10:c.1339C>A	ENSP00000324443.5:p.Gln447Lys
ENST00000352241.9:c.1405C>A MANE Select	ENSP00000295600.8:p.Gln469Lys
ENST00000394351.9:c.1084C>A MANE Plus Clinical	ENSP00000377880.3:p.Gln362Lys
ENST00000448226.9:c.1384C>A	ENSP00000391803.3:p.Gln462Lys
ENST00000642352.1:c.1387C>A	ENSP00000494105.1:p.Gln463Lys
ENST00000314557.10:c.1066C>A	ENSP00000324246.6:p.Gln356Lys
ENST00000314589.9:c.1339C>A	ENSP00000324443.5:p.Gln447Lys
ENST00000328528.10:c.1384C>A	ENSP00000327867.6:p.Gln462Lys
ENST00000352241.8:c.1387C>A	ENSP00000295600.7:p.Gln463Lys
ENST00000394351.7:c.1084C>A	ENSP00000377880.3:p.Gln362Lys
ENST00000448226.6:c.1405C>A	ENSP00000391803.2:p.Gln469Lys
ENST00000472437.5:c.1231C>A	ENSP00000418845.1:p.Gln411Lys
ENST00000478490.5:c.*731C>A	ENSP00000433487.1:n.*731C>A
ENST00000531774.1:c.898C>A	ENSP00000435909.1:p.Gln300Lys
NM_000248.3:c.1084C>A , LRG_776t1:c.1084C>A	NP_000239.1:p.Gln362Lys
NM_001184967.1:c.1231C>A	NP_001171896.1:p.Gln411Lys
NM_006722.2:c.1384C>A	NP_006713.1:p.Gln462Lys
NM_198158.2:c.1066C>A	NP_937801.1:p.Gln356Lys
NM_198159.2:c.1387C>A	NP_937802.1:p.Gln463Lys
NM_198177.2:c.1339C>A	NP_937820.1:p.Gln447Lys
NM_198178.2:c.898C>A	NP_937821.2:p.Gln300Lys
XM_005264754.1:c.1405C>A	XP_005264811.1:p.Gln469Lys
XM_005264755.2:c.1357C>A	XP_005264812.1:p.Gln453Lys
XM_006713164.2:c.1249C>A	XP_006713227.1:p.Gln417Lys
XM_011533722.1:c.1402C>A	XP_011532024.1:p.Gln468Lys
XM_011533723.1:c.1354C>A	XP_011532025.1:p.Gln452Lys
XM_011533724.1:c.1249C>A	XP_011532026.1:p.Gln417Lys
XM_011533725.1:c.1237C>A	XP_011532027.1:p.Gln413Lys
XM_011533726.1:c.1219C>A	XP_011532028.1:p.Gln407Lys
NM_001354604.1:c.1405C>A	NP_001341533.1:p.Gln469Lys
NM_001354605.1:c.1402C>A	NP_001341534.1:p.Gln468Lys
NM_001354606.1:c.1384C>A	NP_001341535.1:p.Gln462Lys
NM_001354607.1:c.1336C>A	NP_001341536.1:p.Gln446Lys
NM_001354608.1:c.1231C>A	NP_001341537.1:p.Gln411Lys
NM_001184967.2:c.1231C>A	NP_001171896.1:p.Gln411Lys
NM_001354604.2:c.1405C>A MANE Select	NP_001341533.1:p.Gln469Lys
NM_001354605.2:c.1402C>A	NP_001341534.1:p.Gln468Lys
NM_001354606.2:c.1384C>A	NP_001341535.1:p.Gln462Lys
NM_001354607.2:c.1336C>A	NP_001341536.1:p.Gln446Lys
NM_001354608.2:c.1231C>A	NP_001341537.1:p.Gln411Lys
NM_198158.3:c.1066C>A	NP_937801.1:p.Gln356Lys
NM_198159.3:c.1387C>A	NP_937802.1:p.Gln463Lys
NM_198177.3:c.1339C>A	NP_937820.1:p.Gln447Lys
NM_198178.3:c.898C>A	NP_937821.2:p.Gln300Lys
NM_000248.4:c.1084C>A MANE Plus Clinical	NP_000239.1:p.Gln362Lys
NM_006722.3:c.1384C>A	NP_006713.1:p.Gln462Lys