Canonical Allele Identifier: CA353559581

Gene: MITF

Linked Data

• dbSNP Id: rs1376096651
• gnomAD v4: 3-69964977-A-T
• MyVariant Identifiers: chr3:g.70014128A>T (hg19) ; chr3:g.69964977A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964977A>T , CM000665.2:g.69964977A>T	GRCh38
NC_000003.11:g.70014128A>T , CM000665.1:g.70014128A>T	GRCh37
NC_000003.10:g.70096818A>T	NCBI36
NG_011631.1:g.230496A>T , LRG_776:g.230496A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1244A>T	ENSP00000324443.5:p.Gln415Leu
ENST00000687384.1:c.1241A>T	ENSP00000510225.1:p.Gln414Leu
ENST00000689390.1:n.1466A>T
ENST00000693031.1:c.1217A>T	ENSP00000509845.1:p.Gln406Leu
ENST00000693549.1:c.*55A>T	ENSP00000509358.1:n.*55A>T
ENST00000314589.10:c.1244A>T	ENSP00000324443.5:p.Gln415Leu
ENST00000352241.9:c.1310A>T MANE Select	ENSP00000295600.8:p.Gln437Leu
ENST00000394351.9:c.989A>T MANE Plus Clinical	ENSP00000377880.3:p.Gln330Leu
ENST00000448226.9:c.1289A>T	ENSP00000391803.3:p.Gln430Leu
ENST00000642352.1:c.1292A>T	ENSP00000494105.1:p.Gln431Leu
ENST00000314557.10:c.971A>T	ENSP00000324246.6:p.Gln324Leu
ENST00000314589.9:c.1244A>T	ENSP00000324443.5:p.Gln415Leu
ENST00000328528.10:c.1289A>T	ENSP00000327867.6:p.Gln430Leu
ENST00000352241.8:c.1292A>T	ENSP00000295600.7:p.Gln431Leu
ENST00000394351.7:c.989A>T	ENSP00000377880.3:p.Gln330Leu
ENST00000448226.6:c.1310A>T	ENSP00000391803.2:p.Gln437Leu
ENST00000472437.5:c.1136A>T	ENSP00000418845.1:p.Gln379Leu
ENST00000478490.5:c.*636A>T	ENSP00000433487.1:n.*636A>T
ENST00000531774.1:c.803A>T	ENSP00000435909.1:p.Gln268Leu
NM_000248.3:c.989A>T , LRG_776t1:c.989A>T	NP_000239.1:p.Gln330Leu
NM_001184967.1:c.1136A>T	NP_001171896.1:p.Gln379Leu
NM_006722.2:c.1289A>T	NP_006713.1:p.Gln430Leu
NM_198158.2:c.971A>T	NP_937801.1:p.Gln324Leu
NM_198159.2:c.1292A>T	NP_937802.1:p.Gln431Leu
NM_198177.2:c.1244A>T	NP_937820.1:p.Gln415Leu
NM_198178.2:c.803A>T	NP_937821.2:p.Gln268Leu
XM_005264754.1:c.1310A>T	XP_005264811.1:p.Gln437Leu
XM_005264755.2:c.1262A>T	XP_005264812.1:p.Gln421Leu
XM_006713164.2:c.1154A>T	XP_006713227.1:p.Gln385Leu
XM_011533722.1:c.1307A>T	XP_011532024.1:p.Gln436Leu
XM_011533723.1:c.1259A>T	XP_011532025.1:p.Gln420Leu
XM_011533724.1:c.1154A>T	XP_011532026.1:p.Gln385Leu
XM_011533725.1:c.1142A>T	XP_011532027.1:p.Gln381Leu
XM_011533726.1:c.1124A>T	XP_011532028.1:p.Gln375Leu
NM_001354604.1:c.1310A>T	NP_001341533.1:p.Gln437Leu
NM_001354605.1:c.1307A>T	NP_001341534.1:p.Gln436Leu
NM_001354606.1:c.1289A>T	NP_001341535.1:p.Gln430Leu
NM_001354607.1:c.1241A>T	NP_001341536.1:p.Gln414Leu
NM_001354608.1:c.1136A>T	NP_001341537.1:p.Gln379Leu
NM_001184967.2:c.1136A>T	NP_001171896.1:p.Gln379Leu
NM_001354604.2:c.1310A>T MANE Select	NP_001341533.1:p.Gln437Leu
NM_001354605.2:c.1307A>T	NP_001341534.1:p.Gln436Leu
NM_001354606.2:c.1289A>T	NP_001341535.1:p.Gln430Leu
NM_001354607.2:c.1241A>T	NP_001341536.1:p.Gln414Leu
NM_001354608.2:c.1136A>T	NP_001341537.1:p.Gln379Leu
NM_198158.3:c.971A>T	NP_937801.1:p.Gln324Leu
NM_198159.3:c.1292A>T	NP_937802.1:p.Gln431Leu
NM_198177.3:c.1244A>T	NP_937820.1:p.Gln415Leu
NM_198178.3:c.803A>T	NP_937821.2:p.Gln268Leu
NM_000248.4:c.989A>T MANE Plus Clinical	NP_000239.1:p.Gln330Leu
NM_006722.3:c.1289A>T	NP_006713.1:p.Gln430Leu