Canonical Allele Identifier: CA353559881

Gene: MITF

Linked Data

• ClinVar Variation Id: 2944207
• ClinVar RCV Id: RCV003805957
• dbSNP Id: rs1416760763
• gnomAD v3: 3-69965121-T-C
• gnomAD v4: 3-69965121-T-C
• MyVariant Identifiers: chr3:g.70014272T>C (hg19) ; chr3:g.69965121T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965121T>C , CM000665.2:g.69965121T>C	GRCh38
NC_000003.11:g.70014272T>C , CM000665.1:g.70014272T>C	GRCh37
NC_000003.10:g.70096962T>C	NCBI36
NG_011631.1:g.230640T>C , LRG_776:g.230640T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1388T>C	ENSP00000324443.5:p.Leu463Pro
ENST00000687384.1:c.1385T>C	ENSP00000510225.1:p.Leu462Pro
ENST00000689390.1:n.1610T>C
ENST00000693031.1:c.1361T>C	ENSP00000509845.1:p.Leu454Pro
ENST00000693549.1:c.*199T>C	ENSP00000509358.1:n.*199T>C
ENST00000314589.10:c.1388T>C	ENSP00000324443.5:p.Leu463Pro
ENST00000352241.9:c.1454T>C MANE Select	ENSP00000295600.8:p.Leu485Pro
ENST00000394351.9:c.1133T>C MANE Plus Clinical	ENSP00000377880.3:p.Leu378Pro
ENST00000448226.9:c.1433T>C	ENSP00000391803.3:p.Leu478Pro
ENST00000642352.1:c.1436T>C	ENSP00000494105.1:p.Leu479Pro
ENST00000314557.10:c.1115T>C	ENSP00000324246.6:p.Leu372Pro
ENST00000314589.9:c.1388T>C	ENSP00000324443.5:p.Leu463Pro
ENST00000328528.10:c.1433T>C	ENSP00000327867.6:p.Leu478Pro
ENST00000352241.8:c.1436T>C	ENSP00000295600.7:p.Leu479Pro
ENST00000394351.7:c.1133T>C	ENSP00000377880.3:p.Leu378Pro
ENST00000448226.6:c.1454T>C	ENSP00000391803.2:p.Leu485Pro
ENST00000472437.5:c.1280T>C	ENSP00000418845.1:p.Leu427Pro
ENST00000478490.5:c.*780T>C	ENSP00000433487.1:n.*780T>C
ENST00000531774.1:c.947T>C	ENSP00000435909.1:p.Leu316Pro
NM_000248.3:c.1133T>C , LRG_776t1:c.1133T>C	NP_000239.1:p.Leu378Pro
NM_001184967.1:c.1280T>C	NP_001171896.1:p.Leu427Pro
NM_006722.2:c.1433T>C	NP_006713.1:p.Leu478Pro
NM_198158.2:c.1115T>C	NP_937801.1:p.Leu372Pro
NM_198159.2:c.1436T>C	NP_937802.1:p.Leu479Pro
NM_198177.2:c.1388T>C	NP_937820.1:p.Leu463Pro
NM_198178.2:c.947T>C	NP_937821.2:p.Leu316Pro
XM_005264754.1:c.1454T>C	XP_005264811.1:p.Leu485Pro
XM_005264755.2:c.1406T>C	XP_005264812.1:p.Leu469Pro
XM_006713164.2:c.1298T>C	XP_006713227.1:p.Leu433Pro
XM_011533722.1:c.1451T>C	XP_011532024.1:p.Leu484Pro
XM_011533723.1:c.1403T>C	XP_011532025.1:p.Leu468Pro
XM_011533724.1:c.1298T>C	XP_011532026.1:p.Leu433Pro
XM_011533725.1:c.1286T>C	XP_011532027.1:p.Leu429Pro
XM_011533726.1:c.1268T>C	XP_011532028.1:p.Leu423Pro
NM_001354604.1:c.1454T>C	NP_001341533.1:p.Leu485Pro
NM_001354605.1:c.1451T>C	NP_001341534.1:p.Leu484Pro
NM_001354606.1:c.1433T>C	NP_001341535.1:p.Leu478Pro
NM_001354607.1:c.1385T>C	NP_001341536.1:p.Leu462Pro
NM_001354608.1:c.1280T>C	NP_001341537.1:p.Leu427Pro
NM_001184967.2:c.1280T>C	NP_001171896.1:p.Leu427Pro
NM_001354604.2:c.1454T>C MANE Select	NP_001341533.1:p.Leu485Pro
NM_001354605.2:c.1451T>C	NP_001341534.1:p.Leu484Pro
NM_001354606.2:c.1433T>C	NP_001341535.1:p.Leu478Pro
NM_001354607.2:c.1385T>C	NP_001341536.1:p.Leu462Pro
NM_001354608.2:c.1280T>C	NP_001341537.1:p.Leu427Pro
NM_198158.3:c.1115T>C	NP_937801.1:p.Leu372Pro
NM_198159.3:c.1436T>C	NP_937802.1:p.Leu479Pro
NM_198177.3:c.1388T>C	NP_937820.1:p.Leu463Pro
NM_198178.3:c.947T>C	NP_937821.2:p.Leu316Pro
NM_000248.4:c.1133T>C MANE Plus Clinical	NP_000239.1:p.Leu378Pro
NM_006722.3:c.1433T>C	NP_006713.1:p.Leu478Pro