Canonical Allele Identifier: CA16605010

Gene: MITF

Linked Data

• ClinVar Variation Id: 387380
• ClinVar RCV Id: RCV000424648 ; RCV003766333
• dbSNP Id: rs1057522775
• COSMIC: COSM3775347 ; COSM3775348 ; COSM3775349 ; COSM3775350
• MyVariant Identifiers: chr3:g.70005608G>C (hg19) ; chr3:g.69956457G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956457G>C , CM000665.2:g.69956457G>C	GRCh38
NC_000003.11:g.70005608G>C , CM000665.1:g.70005608G>C	GRCh37
NC_000003.10:g.70088298G>C	NCBI36
NG_011631.1:g.221976G>C , LRG_776:g.221976G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.892G>C	ENSP00000324443.5:p.Glu298Gln
ENST00000687384.1:c.889G>C	ENSP00000510225.1:p.Glu297Gln
ENST00000689390.1:n.1114G>C
ENST00000693031.1:c.865G>C	ENSP00000509845.1:p.Glu289Gln
ENST00000693549.1:c.892G>C	ENSP00000509358.1:p.Glu298Gln
ENST00000314589.10:c.892G>C	ENSP00000324443.5:p.Glu298Gln
ENST00000352241.9:c.958G>C MANE Select	ENSP00000295600.8:p.Glu320Gln
ENST00000394351.9:c.637G>C MANE Plus Clinical	ENSP00000377880.3:p.Glu213Gln
ENST00000448226.9:c.937G>C	ENSP00000391803.3:p.Glu313Gln
ENST00000642352.1:c.940G>C	ENSP00000494105.1:p.Glu314Gln
ENST00000314557.10:c.619G>C	ENSP00000324246.6:p.Glu207Gln
ENST00000314589.9:c.892G>C	ENSP00000324443.5:p.Glu298Gln
ENST00000328528.10:c.937G>C	ENSP00000327867.6:p.Glu313Gln
ENST00000352241.8:c.940G>C	ENSP00000295600.7:p.Glu314Gln
ENST00000394351.7:c.637G>C	ENSP00000377880.3:p.Glu213Gln
ENST00000448226.6:c.958G>C	ENSP00000391803.2:p.Glu320Gln
ENST00000451708.5:c.910G>C	ENSP00000398639.1:p.Glu304Gln
ENST00000472437.5:c.784G>C	ENSP00000418845.1:p.Glu262Gln
ENST00000478490.5:c.*284G>C	ENSP00000433487.1:n.*284G>C
ENST00000531774.1:c.451G>C	ENSP00000435909.1:p.Glu151Gln
NM_000248.3:c.637G>C , LRG_776t1:c.637G>C	NP_000239.1:p.Glu213Gln
NM_001184967.1:c.784G>C	NP_001171896.1:p.Glu262Gln
NM_006722.2:c.937G>C	NP_006713.1:p.Glu313Gln
NM_198158.2:c.619G>C	NP_937801.1:p.Glu207Gln
NM_198159.2:c.940G>C	NP_937802.1:p.Glu314Gln
NM_198177.2:c.892G>C	NP_937820.1:p.Glu298Gln
NM_198178.2:c.451G>C	NP_937821.2:p.Glu151Gln
XM_005264754.1:c.958G>C	XP_005264811.1:p.Glu320Gln
XM_005264755.2:c.910G>C	XP_005264812.1:p.Glu304Gln
XM_006713164.2:c.802G>C	XP_006713227.1:p.Glu268Gln
XM_011533722.1:c.955G>C	XP_011532024.1:p.Glu319Gln
XM_011533723.1:c.907G>C	XP_011532025.1:p.Glu303Gln
XM_011533724.1:c.802G>C	XP_011532026.1:p.Glu268Gln
XM_011533725.1:c.790G>C	XP_011532027.1:p.Glu264Gln
XM_011533726.1:c.772G>C	XP_011532028.1:p.Glu258Gln
NM_001354604.1:c.958G>C	NP_001341533.1:p.Glu320Gln
NM_001354605.1:c.955G>C	NP_001341534.1:p.Glu319Gln
NM_001354606.1:c.937G>C	NP_001341535.1:p.Glu313Gln
NM_001354607.1:c.889G>C	NP_001341536.1:p.Glu297Gln
NM_001354608.1:c.784G>C	NP_001341537.1:p.Glu262Gln
NM_001184967.2:c.784G>C	NP_001171896.1:p.Glu262Gln
NM_001354604.2:c.958G>C MANE Select	NP_001341533.1:p.Glu320Gln
NM_001354605.2:c.955G>C	NP_001341534.1:p.Glu319Gln
NM_001354606.2:c.937G>C	NP_001341535.1:p.Glu313Gln
NM_001354607.2:c.889G>C	NP_001341536.1:p.Glu297Gln
NM_001354608.2:c.784G>C	NP_001341537.1:p.Glu262Gln
NM_198158.3:c.619G>C	NP_937801.1:p.Glu207Gln
NM_198159.3:c.940G>C	NP_937802.1:p.Glu314Gln
NM_198177.3:c.892G>C	NP_937820.1:p.Glu298Gln
NM_198178.3:c.451G>C	NP_937821.2:p.Glu151Gln
NM_000248.4:c.637G>C MANE Plus Clinical	NP_000239.1:p.Glu213Gln
NM_006722.3:c.937G>C	NP_006713.1:p.Glu313Gln