Canonical Allele Identifier: CA2666480884

Gene: MITF

Linked Data

• gnomAD v4: 3-69964730-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964730G>T , CM000665.2:g.69964730G>T	GRCh38
NC_000003.11:g.70013881G>T , CM000665.1:g.70013881G>T	GRCh37
NC_000003.10:g.70096571G>T	NCBI36
NG_011631.1:g.230249G>T , LRG_776:g.230249G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1114-117G>T	ENSP00000324443.5:n.1114-117G>T
ENST00000687384.1:c.1111-117G>T	ENSP00000510225.1:n.1111-117G>T
ENST00000689390.1:n.1336-117G>T
ENST00000693031.1:c.1087-117G>T	ENSP00000509845.1:n.1087-117G>T
ENST00000693549.1:c.1114-184G>T	ENSP00000509358.1:n.1114-184G>T
ENST00000314589.10:c.1114-117G>T	ENSP00000324443.5:n.1114-117G>T
ENST00000352241.9:c.1180-117G>T MANE Select	ENSP00000295600.8:n.1180-117G>T
ENST00000394351.9:c.859-117G>T MANE Plus Clinical	ENSP00000377880.3:n.859-117G>T
ENST00000448226.9:c.1159-117G>T	ENSP00000391803.3:n.1159-117G>T
ENST00000642352.1:c.1162-117G>T	ENSP00000494105.1:n.1162-117G>T
ENST00000314557.10:c.841-117G>T	ENSP00000324246.6:n.841-117G>T
ENST00000314589.9:c.1114-117G>T	ENSP00000324443.5:n.1114-117G>T
ENST00000328528.10:c.1159-117G>T	ENSP00000327867.6:n.1159-117G>T
ENST00000352241.8:c.1162-117G>T	ENSP00000295600.7:n.1162-117G>T
ENST00000394351.7:c.859-117G>T	ENSP00000377880.3:n.859-117G>T
ENST00000448226.6:c.1180-117G>T	ENSP00000391803.2:n.1180-117G>T
ENST00000472437.5:c.1006-117G>T	ENSP00000418845.1:n.1006-117G>T
ENST00000478490.5:c.*506-117G>T	ENSP00000433487.1:n.*506-117G>T
ENST00000531774.1:c.673-117G>T	ENSP00000435909.1:n.673-117G>T
NM_000248.3:c.859-117G>T , LRG_776t1:c.859-117G>T	NP_000239.1:n.859-117G>T
NM_001184967.1:c.1006-117G>T	NP_001171896.1:n.1006-117G>T
NM_006722.2:c.1159-117G>T	NP_006713.1:n.1159-117G>T
NM_198158.2:c.841-117G>T	NP_937801.1:n.841-117G>T
NM_198159.2:c.1162-117G>T	NP_937802.1:n.1162-117G>T
NM_198177.2:c.1114-117G>T	NP_937820.1:n.1114-117G>T
NM_198178.2:c.673-117G>T	NP_937821.2:n.673-117G>T
XM_005264754.1:c.1180-117G>T	XP_005264811.1:n.1180-117G>T
XM_005264755.2:c.1132-117G>T	XP_005264812.1:n.1132-117G>T
XM_006713164.2:c.1024-117G>T	XP_006713227.1:n.1024-117G>T
XM_011533722.1:c.1177-117G>T	XP_011532024.1:n.1177-117G>T
XM_011533723.1:c.1129-117G>T	XP_011532025.1:n.1129-117G>T
XM_011533724.1:c.1024-117G>T	XP_011532026.1:n.1024-117G>T
XM_011533725.1:c.1012-117G>T	XP_011532027.1:n.1012-117G>T
XM_011533726.1:c.994-117G>T	XP_011532028.1:n.994-117G>T
NM_001354604.1:c.1180-117G>T	NP_001341533.1:n.1180-117G>T
NM_001354605.1:c.1177-117G>T	NP_001341534.1:n.1177-117G>T
NM_001354606.1:c.1159-117G>T	NP_001341535.1:n.1159-117G>T
NM_001354607.1:c.1111-117G>T	NP_001341536.1:n.1111-117G>T
NM_001354608.1:c.1006-117G>T	NP_001341537.1:n.1006-117G>T
NM_001184967.2:c.1006-117G>T	NP_001171896.1:n.1006-117G>T
NM_001354604.2:c.1180-117G>T MANE Select	NP_001341533.1:n.1180-117G>T
NM_001354605.2:c.1177-117G>T	NP_001341534.1:n.1177-117G>T
NM_001354606.2:c.1159-117G>T	NP_001341535.1:n.1159-117G>T
NM_001354607.2:c.1111-117G>T	NP_001341536.1:n.1111-117G>T
NM_001354608.2:c.1006-117G>T	NP_001341537.1:n.1006-117G>T
NM_198158.3:c.841-117G>T	NP_937801.1:n.841-117G>T
NM_198159.3:c.1162-117G>T	NP_937802.1:n.1162-117G>T
NM_198177.3:c.1114-117G>T	NP_937820.1:n.1114-117G>T
NM_198178.3:c.673-117G>T	NP_937821.2:n.673-117G>T
NM_000248.4:c.859-117G>T MANE Plus Clinical	NP_000239.1:n.859-117G>T
NM_006722.3:c.1159-117G>T	NP_006713.1:n.1159-117G>T