Canonical Allele Identifier: CA353561541

Gene: MITF

Linked Data

• gnomAD v4: 3-69951829-G-C
• MyVariant Identifiers: chr3:g.70000980G>C (hg19) ; chr3:g.69951829G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951829G>C , CM000665.2:g.69951829G>C	GRCh38
NC_000003.11:g.70000980G>C , CM000665.1:g.70000980G>C	GRCh37
NC_000003.10:g.70083670G>C	NCBI36
NG_011631.1:g.217348G>C , LRG_776:g.217348G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.833-1G>C	ENSP00000324443.5:n.833-1G>C
ENST00000687384.1:c.830-1G>C	ENSP00000510225.1:n.830-1G>C
ENST00000689390.1:n.1055-1G>C
ENST00000693031.1:c.806-1G>C	ENSP00000509845.1:n.806-1G>C
ENST00000693549.1:c.833-1G>C	ENSP00000509358.1:n.833-1G>C
ENST00000314589.10:c.833-1G>C	ENSP00000324443.5:n.833-1G>C
ENST00000352241.9:c.898G>C MANE Select	ENSP00000295600.8:p.Glu300Gln
ENST00000394351.9:c.577G>C MANE Plus Clinical	ENSP00000377880.3:p.Glu193Gln
ENST00000448226.9:c.878-1G>C	ENSP00000391803.3:n.878-1G>C
ENST00000642352.1:c.881-1G>C	ENSP00000494105.1:n.881-1G>C
ENST00000314557.10:c.560-1G>C	ENSP00000324246.6:n.560-1G>C
ENST00000314589.9:c.833-1G>C	ENSP00000324443.5:n.833-1G>C
ENST00000328528.10:c.878-1G>C	ENSP00000327867.6:n.878-1G>C
ENST00000352241.8:c.881-1G>C	ENSP00000295600.7:n.881-1G>C
ENST00000394351.7:c.577G>C	ENSP00000377880.3:p.Glu193Gln
ENST00000448226.6:c.898G>C	ENSP00000391803.2:p.Glu300Gln
ENST00000451708.5:c.850G>C	ENSP00000398639.1:p.Glu284Gln
ENST00000472437.5:c.725-1G>C	ENSP00000418845.1:n.725-1G>C
ENST00000478490.5:c.*224G>C	ENSP00000433487.1:n.*224G>C
ENST00000531774.1:c.392-1G>C	ENSP00000435909.1:n.392-1G>C
NM_000248.3:c.577G>C , LRG_776t1:c.577G>C	NP_000239.1:p.Glu193Gln
NM_001184967.1:c.725-1G>C	NP_001171896.1:n.725-1G>C
NM_006722.2:c.878-1G>C	NP_006713.1:n.878-1G>C
NM_198158.2:c.560-1G>C	NP_937801.1:n.560-1G>C
NM_198159.2:c.881-1G>C	NP_937802.1:n.881-1G>C
NM_198177.2:c.833-1G>C	NP_937820.1:n.833-1G>C
NM_198178.2:c.392-1G>C	NP_937821.2:n.392-1G>C
XM_005264754.1:c.898G>C	XP_005264811.1:p.Glu300Gln
XM_005264755.2:c.850G>C	XP_005264812.1:p.Glu284Gln
XM_006713164.2:c.742G>C	XP_006713227.1:p.Glu248Gln
XM_011533722.1:c.895G>C	XP_011532024.1:p.Glu299Gln
XM_011533723.1:c.847G>C	XP_011532025.1:p.Glu283Gln
XM_011533724.1:c.742G>C	XP_011532026.1:p.Glu248Gln
XM_011533725.1:c.730G>C	XP_011532027.1:p.Glu244Gln
XM_011533726.1:c.713-1G>C	XP_011532028.1:n.713-1G>C
NM_001354604.1:c.898G>C	NP_001341533.1:p.Glu300Gln
NM_001354605.1:c.895G>C	NP_001341534.1:p.Glu299Gln
NM_001354606.1:c.878-1G>C	NP_001341535.1:n.878-1G>C
NM_001354607.1:c.830-1G>C	NP_001341536.1:n.830-1G>C
NM_001354608.1:c.725-1G>C	NP_001341537.1:n.725-1G>C
NM_001184967.2:c.725-1G>C	NP_001171896.1:n.725-1G>C
NM_001354604.2:c.898G>C MANE Select	NP_001341533.1:p.Glu300Gln
NM_001354605.2:c.895G>C	NP_001341534.1:p.Glu299Gln
NM_001354606.2:c.878-1G>C	NP_001341535.1:n.878-1G>C
NM_001354607.2:c.830-1G>C	NP_001341536.1:n.830-1G>C
NM_001354608.2:c.725-1G>C	NP_001341537.1:n.725-1G>C
NM_198158.3:c.560-1G>C	NP_937801.1:n.560-1G>C
NM_198159.3:c.881-1G>C	NP_937802.1:n.881-1G>C
NM_198177.3:c.833-1G>C	NP_937820.1:n.833-1G>C
NM_198178.3:c.392-1G>C	NP_937821.2:n.392-1G>C
NM_000248.4:c.577G>C MANE Plus Clinical	NP_000239.1:p.Glu193Gln
NM_006722.3:c.878-1G>C	NP_006713.1:n.878-1G>C