Canonical Allele Identifier: CA2490669

Gene: MITF

Linked Data

• ClinVar Variation Id: 1208773
• ClinVar RCV Id: RCV001577209 ; RCV002568495 ; RCV003910903
• dbSNP Id: rs150213411
• ExAC: 3:70014261 G / A
• gnomAD v2: 3-70014261-G-A
• gnomAD v3: 3-69965110-G-A
• gnomAD v4: 3-69965110-G-A
• MyVariant Identifiers: chr3:g.70014261G>A (hg19) ; chr3:g.69965110G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965110G>A , CM000665.2:g.69965110G>A	GRCh38
NC_000003.11:g.70014261G>A , CM000665.1:g.70014261G>A	GRCh37
NC_000003.10:g.70096951G>A	NCBI36
NG_011631.1:g.230629G>A , LRG_776:g.230629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1377G>A	ENSP00000324443.5:p.Leu459=
ENST00000687384.1:c.1374G>A	ENSP00000510225.1:p.Leu458=
ENST00000689390.1:n.1599G>A
ENST00000693031.1:c.1350G>A	ENSP00000509845.1:p.Leu450=
ENST00000693549.1:c.*188G>A	ENSP00000509358.1:n.*188G>A
ENST00000314589.10:c.1377G>A	ENSP00000324443.5:p.Leu459=
ENST00000352241.9:c.1443G>A MANE Select	ENSP00000295600.8:p.Leu481=
ENST00000394351.9:c.1122G>A MANE Plus Clinical	ENSP00000377880.3:p.Leu374=
ENST00000448226.9:c.1422G>A	ENSP00000391803.3:p.Leu474=
ENST00000642352.1:c.1425G>A	ENSP00000494105.1:p.Leu475=
ENST00000314557.10:c.1104G>A	ENSP00000324246.6:p.Leu368=
ENST00000314589.9:c.1377G>A	ENSP00000324443.5:p.Leu459=
ENST00000328528.10:c.1422G>A	ENSP00000327867.6:p.Leu474=
ENST00000352241.8:c.1425G>A	ENSP00000295600.7:p.Leu475=
ENST00000394351.7:c.1122G>A	ENSP00000377880.3:p.Leu374=
ENST00000448226.6:c.1443G>A	ENSP00000391803.2:p.Leu481=
ENST00000472437.5:c.1269G>A	ENSP00000418845.1:p.Leu423=
ENST00000478490.5:c.*769G>A	ENSP00000433487.1:n.*769G>A
ENST00000531774.1:c.936G>A	ENSP00000435909.1:p.Leu312=
NM_000248.3:c.1122G>A , LRG_776t1:c.1122G>A	NP_000239.1:p.Leu374=
NM_001184967.1:c.1269G>A	NP_001171896.1:p.Leu423=
NM_006722.2:c.1422G>A	NP_006713.1:p.Leu474=
NM_198158.2:c.1104G>A	NP_937801.1:p.Leu368=
NM_198159.2:c.1425G>A	NP_937802.1:p.Leu475=
NM_198177.2:c.1377G>A	NP_937820.1:p.Leu459=
NM_198178.2:c.936G>A	NP_937821.2:p.Leu312=
XM_005264754.1:c.1443G>A	XP_005264811.1:p.Leu481=
XM_005264755.2:c.1395G>A	XP_005264812.1:p.Leu465=
XM_006713164.2:c.1287G>A	XP_006713227.1:p.Leu429=
XM_011533722.1:c.1440G>A	XP_011532024.1:p.Leu480=
XM_011533723.1:c.1392G>A	XP_011532025.1:p.Leu464=
XM_011533724.1:c.1287G>A	XP_011532026.1:p.Leu429=
XM_011533725.1:c.1275G>A	XP_011532027.1:p.Leu425=
XM_011533726.1:c.1257G>A	XP_011532028.1:p.Leu419=
NM_001354604.1:c.1443G>A	NP_001341533.1:p.Leu481=
NM_001354605.1:c.1440G>A	NP_001341534.1:p.Leu480=
NM_001354606.1:c.1422G>A	NP_001341535.1:p.Leu474=
NM_001354607.1:c.1374G>A	NP_001341536.1:p.Leu458=
NM_001354608.1:c.1269G>A	NP_001341537.1:p.Leu423=
NM_001184967.2:c.1269G>A	NP_001171896.1:p.Leu423=
NM_001354604.2:c.1443G>A MANE Select	NP_001341533.1:p.Leu481=
NM_001354605.2:c.1440G>A	NP_001341534.1:p.Leu480=
NM_001354606.2:c.1422G>A	NP_001341535.1:p.Leu474=
NM_001354607.2:c.1374G>A	NP_001341536.1:p.Leu458=
NM_001354608.2:c.1269G>A	NP_001341537.1:p.Leu423=
NM_198158.3:c.1104G>A	NP_937801.1:p.Leu368=
NM_198159.3:c.1425G>A	NP_937802.1:p.Leu475=
NM_198177.3:c.1377G>A	NP_937820.1:p.Leu459=
NM_198178.3:c.936G>A	NP_937821.2:p.Leu312=
NM_000248.4:c.1122G>A MANE Plus Clinical	NP_000239.1:p.Leu374=
NM_006722.3:c.1422G>A	NP_006713.1:p.Leu474=