Canonical Allele Identifier: CA353561700

Gene: MITF

Linked Data

• ClinVar Variation Id: 1878809
• ClinVar RCV Id: RCV002511310
• dbSNP Id: rs2066399994
• gnomAD v3: 3-69956461-G-A
• gnomAD v4: 3-69956461-G-A
• MyVariant Identifiers: chr3:g.70005612G>A (hg19) ; chr3:g.69956461G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956461G>A , CM000665.2:g.69956461G>A	GRCh38
NC_000003.11:g.70005612G>A , CM000665.1:g.70005612G>A	GRCh37
NC_000003.10:g.70088302G>A	NCBI36
NG_011631.1:g.221980G>A , LRG_776:g.221980G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000314589.11:c.896G>A	ENSP00000324443.5:p.Arg299Gln
ENST00000687384.1:c.893G>A	ENSP00000510225.1:p.Arg298Gln
ENST00000689390.1:n.1118G>A
ENST00000693031.1:c.869G>A	ENSP00000509845.1:p.Arg290Gln
ENST00000693549.1:c.896G>A	ENSP00000509358.1:p.Arg299Gln
ENST00000314589.10:c.896G>A	ENSP00000324443.5:p.Arg299Gln
ENST00000352241.9:c.962G>A MANE Select	ENSP00000295600.8:p.Arg321Gln
ENST00000394351.9:c.641G>A MANE Plus Clinical	ENSP00000377880.3:p.Arg214Gln
ENST00000448226.9:c.941G>A	ENSP00000391803.3:p.Arg314Gln
ENST00000642352.1:c.944G>A	ENSP00000494105.1:p.Arg315Gln
ENST00000314557.10:c.623G>A	ENSP00000324246.6:p.Arg208Gln
ENST00000314589.9:c.896G>A	ENSP00000324443.5:p.Arg299Gln
ENST00000328528.10:c.941G>A	ENSP00000327867.6:p.Arg314Gln
ENST00000352241.8:c.944G>A	ENSP00000295600.7:p.Arg315Gln
ENST00000394351.7:c.641G>A	ENSP00000377880.3:p.Arg214Gln
ENST00000448226.6:c.962G>A	ENSP00000391803.2:p.Arg321Gln
ENST00000451708.5:c.914G>A	ENSP00000398639.1:p.Arg305Gln
ENST00000472437.5:c.788G>A	ENSP00000418845.1:p.Arg263Gln
ENST00000478490.5:c.*288G>A	ENSP00000433487.1:n.*288G>A
ENST00000531774.1:c.455G>A	ENSP00000435909.1:p.Arg152Gln
NM_000248.3:c.641G>A , LRG_776t1:c.641G>A	NP_000239.1:p.Arg214Gln
NM_001184967.1:c.788G>A	NP_001171896.1:p.Arg263Gln
NM_006722.2:c.941G>A	NP_006713.1:p.Arg314Gln
NM_198158.2:c.623G>A	NP_937801.1:p.Arg208Gln
NM_198159.2:c.944G>A	NP_937802.1:p.Arg315Gln
NM_198177.2:c.896G>A	NP_937820.1:p.Arg299Gln
NM_198178.2:c.455G>A	NP_937821.2:p.Arg152Gln
XM_005264754.1:c.962G>A	XP_005264811.1:p.Arg321Gln
XM_005264755.2:c.914G>A	XP_005264812.1:p.Arg305Gln
XM_006713164.2:c.806G>A	XP_006713227.1:p.Arg269Gln
XM_011533722.1:c.959G>A	XP_011532024.1:p.Arg320Gln
XM_011533723.1:c.911G>A	XP_011532025.1:p.Arg304Gln
XM_011533724.1:c.806G>A	XP_011532026.1:p.Arg269Gln
XM_011533725.1:c.794G>A	XP_011532027.1:p.Arg265Gln
XM_011533726.1:c.776G>A	XP_011532028.1:p.Arg259Gln
NM_001354604.1:c.962G>A	NP_001341533.1:p.Arg321Gln
NM_001354605.1:c.959G>A	NP_001341534.1:p.Arg320Gln
NM_001354606.1:c.941G>A	NP_001341535.1:p.Arg314Gln
NM_001354607.1:c.893G>A	NP_001341536.1:p.Arg298Gln
NM_001354608.1:c.788G>A	NP_001341537.1:p.Arg263Gln
NM_001184967.2:c.788G>A	NP_001171896.1:p.Arg263Gln
NM_001354604.2:c.962G>A MANE Select	NP_001341533.1:p.Arg321Gln
NM_001354605.2:c.959G>A	NP_001341534.1:p.Arg320Gln
NM_001354606.2:c.941G>A	NP_001341535.1:p.Arg314Gln
NM_001354607.2:c.893G>A	NP_001341536.1:p.Arg298Gln
NM_001354608.2:c.788G>A	NP_001341537.1:p.Arg263Gln
NM_198158.3:c.623G>A	NP_937801.1:p.Arg208Gln
NM_198159.3:c.944G>A	NP_937802.1:p.Arg315Gln
NM_198177.3:c.896G>A	NP_937820.1:p.Arg299Gln
NM_198178.3:c.455G>A	NP_937821.2:p.Arg152Gln
NM_000248.4:c.641G>A MANE Plus Clinical	NP_000239.1:p.Arg214Gln
NM_006722.3:c.941G>A	NP_006713.1:p.Arg314Gln