Canonical Allele Identifier: CA2490621

Gene: MITF

Linked Data

• ClinVar Variation Id: 227545
• ClinVar RCV Id: RCV000215990 ; RCV000299354 ; RCV000394794 ; RCV000762121 ; RCV002517480
• dbSNP Id: rs137904015
• ExAC: 3:70014000 A / G
• gnomAD v2: 3-70014000-A-G
• gnomAD v3: 3-69964849-A-G
• gnomAD v4: 3-69964849-A-G
• COSMIC: COSM2784815 ; COSM2784816 ; COSM2784817 ; COSM2784818
• MyVariant Identifiers: chr3:g.70014000A>G (hg19) ; chr3:g.69964849A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964849A>G , CM000665.2:g.69964849A>G	GRCh38
NC_000003.11:g.70014000A>G , CM000665.1:g.70014000A>G	GRCh37
NC_000003.10:g.70096690A>G	NCBI36
NG_011631.1:g.230368A>G , LRG_776:g.230368A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000314589.11:c.1116A>G	ENSP00000324443.5:p.Glu372=
ENST00000687384.1:c.1113A>G	ENSP00000510225.1:p.Glu371=
ENST00000689390.1:n.1338A>G
ENST00000693031.1:c.1089A>G	ENSP00000509845.1:p.Glu363=
ENST00000693549.1:c.1114-65A>G	ENSP00000509358.1:n.1114-65A>G
ENST00000314589.10:c.1116A>G	ENSP00000324443.5:p.Glu372=
ENST00000352241.9:c.1182A>G MANE Select	ENSP00000295600.8:p.Glu394=
ENST00000394351.9:c.861A>G MANE Plus Clinical	ENSP00000377880.3:p.Glu287=
ENST00000448226.9:c.1161A>G	ENSP00000391803.3:p.Glu387=
ENST00000642352.1:c.1164A>G	ENSP00000494105.1:p.Glu388=
ENST00000314557.10:c.843A>G	ENSP00000324246.6:p.Glu281=
ENST00000314589.9:c.1116A>G	ENSP00000324443.5:p.Glu372=
ENST00000328528.10:c.1161A>G	ENSP00000327867.6:p.Glu387=
ENST00000352241.8:c.1164A>G	ENSP00000295600.7:p.Glu388=
ENST00000394351.7:c.861A>G	ENSP00000377880.3:p.Glu287=
ENST00000448226.6:c.1182A>G	ENSP00000391803.2:p.Glu394=
ENST00000472437.5:c.1008A>G	ENSP00000418845.1:p.Glu336=
ENST00000478490.5:c.*508A>G	ENSP00000433487.1:n.*508A>G
ENST00000531774.1:c.675A>G	ENSP00000435909.1:p.Glu225=
NM_000248.3:c.861A>G , LRG_776t1:c.861A>G	NP_000239.1:p.Glu287=
NM_001184967.1:c.1008A>G	NP_001171896.1:p.Glu336=
NM_006722.2:c.1161A>G	NP_006713.1:p.Glu387=
NM_198158.2:c.843A>G	NP_937801.1:p.Glu281=
NM_198159.2:c.1164A>G	NP_937802.1:p.Glu388=
NM_198177.2:c.1116A>G	NP_937820.1:p.Glu372=
NM_198178.2:c.675A>G	NP_937821.2:p.Glu225=
XM_005264754.1:c.1182A>G	XP_005264811.1:p.Glu394=
XM_005264755.2:c.1134A>G	XP_005264812.1:p.Glu378=
XM_006713164.2:c.1026A>G	XP_006713227.1:p.Glu342=
XM_011533722.1:c.1179A>G	XP_011532024.1:p.Glu393=
XM_011533723.1:c.1131A>G	XP_011532025.1:p.Glu377=
XM_011533724.1:c.1026A>G	XP_011532026.1:p.Glu342=
XM_011533725.1:c.1014A>G	XP_011532027.1:p.Glu338=
XM_011533726.1:c.996A>G	XP_011532028.1:p.Glu332=
NM_001354604.1:c.1182A>G	NP_001341533.1:p.Glu394=
NM_001354605.1:c.1179A>G	NP_001341534.1:p.Glu393=
NM_001354606.1:c.1161A>G	NP_001341535.1:p.Glu387=
NM_001354607.1:c.1113A>G	NP_001341536.1:p.Glu371=
NM_001354608.1:c.1008A>G	NP_001341537.1:p.Glu336=
NM_001184967.2:c.1008A>G	NP_001171896.1:p.Glu336=
NM_001354604.2:c.1182A>G MANE Select	NP_001341533.1:p.Glu394=
NM_001354605.2:c.1179A>G	NP_001341534.1:p.Glu393=
NM_001354606.2:c.1161A>G	NP_001341535.1:p.Glu387=
NM_001354607.2:c.1113A>G	NP_001341536.1:p.Glu371=
NM_001354608.2:c.1008A>G	NP_001341537.1:p.Glu336=
NM_198158.3:c.843A>G	NP_937801.1:p.Glu281=
NM_198159.3:c.1164A>G	NP_937802.1:p.Glu388=
NM_198177.3:c.1116A>G	NP_937820.1:p.Glu372=
NM_198178.3:c.675A>G	NP_937821.2:p.Glu225=
NM_000248.4:c.861A>G MANE Plus Clinical	NP_000239.1:p.Glu287=
NM_006722.3:c.1161A>G	NP_006713.1:p.Glu387=