Canonical Allele Identifier: CA2490644

Gene: MITF

Linked Data

• ClinVar Variation Id: 2937224
• ClinVar RCV Id: RCV003791414
• dbSNP Id: rs200423604
• ExAC: 3:70014162 C / T
• gnomAD v2: 3-70014162-C-T
• gnomAD v4: 3-69965011-C-T
• COSMIC: COSM2784823 ; COSM2784824 ; COSM2784825 ; COSM2784826
• MyVariant Identifiers: chr3:g.70014162C>T (hg19) ; chr3:g.69965011C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965011C>T , CM000665.2:g.69965011C>T	GRCh38
NC_000003.11:g.70014162C>T , CM000665.1:g.70014162C>T	GRCh37
NC_000003.10:g.70096852C>T	NCBI36
NG_011631.1:g.230530C>T , LRG_776:g.230530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1278C>T	ENSP00000324443.5:p.Leu426=
ENST00000687384.1:c.1275C>T	ENSP00000510225.1:p.Leu425=
ENST00000689390.1:n.1500C>T
ENST00000693031.1:c.1251C>T	ENSP00000509845.1:p.Leu417=
ENST00000693549.1:c.*89C>T	ENSP00000509358.1:n.*89C>T
ENST00000314589.10:c.1278C>T	ENSP00000324443.5:p.Leu426=
ENST00000352241.9:c.1344C>T MANE Select	ENSP00000295600.8:p.Leu448=
ENST00000394351.9:c.1023C>T MANE Plus Clinical	ENSP00000377880.3:p.Leu341=
ENST00000448226.9:c.1323C>T	ENSP00000391803.3:p.Leu441=
ENST00000642352.1:c.1326C>T	ENSP00000494105.1:p.Leu442=
ENST00000314557.10:c.1005C>T	ENSP00000324246.6:p.Leu335=
ENST00000314589.9:c.1278C>T	ENSP00000324443.5:p.Leu426=
ENST00000328528.10:c.1323C>T	ENSP00000327867.6:p.Leu441=
ENST00000352241.8:c.1326C>T	ENSP00000295600.7:p.Leu442=
ENST00000394351.7:c.1023C>T	ENSP00000377880.3:p.Leu341=
ENST00000448226.6:c.1344C>T	ENSP00000391803.2:p.Leu448=
ENST00000472437.5:c.1170C>T	ENSP00000418845.1:p.Leu390=
ENST00000478490.5:c.*670C>T	ENSP00000433487.1:n.*670C>T
ENST00000531774.1:c.837C>T	ENSP00000435909.1:p.Leu279=
NM_000248.3:c.1023C>T , LRG_776t1:c.1023C>T	NP_000239.1:p.Leu341=
NM_001184967.1:c.1170C>T	NP_001171896.1:p.Leu390=
NM_006722.2:c.1323C>T	NP_006713.1:p.Leu441=
NM_198158.2:c.1005C>T	NP_937801.1:p.Leu335=
NM_198159.2:c.1326C>T	NP_937802.1:p.Leu442=
NM_198177.2:c.1278C>T	NP_937820.1:p.Leu426=
NM_198178.2:c.837C>T	NP_937821.2:p.Leu279=
XM_005264754.1:c.1344C>T	XP_005264811.1:p.Leu448=
XM_005264755.2:c.1296C>T	XP_005264812.1:p.Leu432=
XM_006713164.2:c.1188C>T	XP_006713227.1:p.Leu396=
XM_011533722.1:c.1341C>T	XP_011532024.1:p.Leu447=
XM_011533723.1:c.1293C>T	XP_011532025.1:p.Leu431=
XM_011533724.1:c.1188C>T	XP_011532026.1:p.Leu396=
XM_011533725.1:c.1176C>T	XP_011532027.1:p.Leu392=
XM_011533726.1:c.1158C>T	XP_011532028.1:p.Leu386=
NM_001354604.1:c.1344C>T	NP_001341533.1:p.Leu448=
NM_001354605.1:c.1341C>T	NP_001341534.1:p.Leu447=
NM_001354606.1:c.1323C>T	NP_001341535.1:p.Leu441=
NM_001354607.1:c.1275C>T	NP_001341536.1:p.Leu425=
NM_001354608.1:c.1170C>T	NP_001341537.1:p.Leu390=
NM_001184967.2:c.1170C>T	NP_001171896.1:p.Leu390=
NM_001354604.2:c.1344C>T MANE Select	NP_001341533.1:p.Leu448=
NM_001354605.2:c.1341C>T	NP_001341534.1:p.Leu447=
NM_001354606.2:c.1323C>T	NP_001341535.1:p.Leu441=
NM_001354607.2:c.1275C>T	NP_001341536.1:p.Leu425=
NM_001354608.2:c.1170C>T	NP_001341537.1:p.Leu390=
NM_198158.3:c.1005C>T	NP_937801.1:p.Leu335=
NM_198159.3:c.1326C>T	NP_937802.1:p.Leu442=
NM_198177.3:c.1278C>T	NP_937820.1:p.Leu426=
NM_198178.3:c.837C>T	NP_937821.2:p.Leu279=
NM_000248.4:c.1023C>T MANE Plus Clinical	NP_000239.1:p.Leu341=
NM_006722.3:c.1323C>T	NP_006713.1:p.Leu441=