Canonical Allele Identifier: CA434433740
Gene: MITF HGNC NCBI

Linked Data

gnomAD v4: 3-69965041-C-T
MyVariant Identifiers: chr3:g.70014192C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965041C>T , CM000665.2:g.69965041C>T GRCh38
NC_000003.11:g.70014192C>T , CM000665.1:g.70014192C>T GRCh37
NC_000003.10:g.70096882C>T NCBI36
NG_011631.1:g.230560C>T , LRG_776:g.230560C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1308C>T ENSP00000324443.5:p.Asn436=
ENST00000687384.1:c.1305C>T ENSP00000510225.1:p.Asn435=
ENST00000689390.1:n.1530C>T
ENST00000693031.1:c.1281C>T ENSP00000509845.1:p.Asn427=
ENST00000693549.1:c.*119C>T ENSP00000509358.1:n.*119C>T
ENST00000314589.10:c.1308C>T ENSP00000324443.5:p.Asn436=
ENST00000352241.9:c.1374C>T MANE Select ENSP00000295600.8:p.Asn458=
ENST00000394351.9:c.1053C>T MANE Plus Clinical ENSP00000377880.3:p.Asn351=
ENST00000448226.9:c.1353C>T ENSP00000391803.3:p.Asn451=
ENST00000642352.1:c.1356C>T ENSP00000494105.1:p.Asn452=
ENST00000314557.10:c.1035C>T ENSP00000324246.6:p.Asn345=
ENST00000314589.9:c.1308C>T ENSP00000324443.5:p.Asn436=
ENST00000328528.10:c.1353C>T ENSP00000327867.6:p.Asn451=
ENST00000352241.8:c.1356C>T ENSP00000295600.7:p.Asn452=
ENST00000394351.7:c.1053C>T ENSP00000377880.3:p.Asn351=
ENST00000448226.6:c.1374C>T ENSP00000391803.2:p.Asn458=
ENST00000472437.5:c.1200C>T ENSP00000418845.1:p.Asn400=
ENST00000478490.5:c.*700C>T ENSP00000433487.1:n.*700C>T
ENST00000531774.1:c.867C>T ENSP00000435909.1:p.Asn289=
NM_000248.3:c.1053C>T , LRG_776t1:c.1053C>T NP_000239.1:p.Asn351=
NM_001184967.1:c.1200C>T NP_001171896.1:p.Asn400=
NM_006722.2:c.1353C>T NP_006713.1:p.Asn451=
NM_198158.2:c.1035C>T NP_937801.1:p.Asn345=
NM_198159.2:c.1356C>T NP_937802.1:p.Asn452=
NM_198177.2:c.1308C>T NP_937820.1:p.Asn436=
NM_198178.2:c.867C>T NP_937821.2:p.Asn289=
XM_005264754.1:c.1374C>T XP_005264811.1:p.Asn458=
XM_005264755.2:c.1326C>T XP_005264812.1:p.Asn442=
XM_006713164.2:c.1218C>T XP_006713227.1:p.Asn406=
XM_011533722.1:c.1371C>T XP_011532024.1:p.Asn457=
XM_011533723.1:c.1323C>T XP_011532025.1:p.Asn441=
XM_011533724.1:c.1218C>T XP_011532026.1:p.Asn406=
XM_011533725.1:c.1206C>T XP_011532027.1:p.Asn402=
XM_011533726.1:c.1188C>T XP_011532028.1:p.Asn396=
NM_001354604.1:c.1374C>T NP_001341533.1:p.Asn458=
NM_001354605.1:c.1371C>T NP_001341534.1:p.Asn457=
NM_001354606.1:c.1353C>T NP_001341535.1:p.Asn451=
NM_001354607.1:c.1305C>T NP_001341536.1:p.Asn435=
NM_001354608.1:c.1200C>T NP_001341537.1:p.Asn400=
NM_001184967.2:c.1200C>T NP_001171896.1:p.Asn400=
NM_001354604.2:c.1374C>T MANE Select NP_001341533.1:p.Asn458=
NM_001354605.2:c.1371C>T NP_001341534.1:p.Asn457=
NM_001354606.2:c.1353C>T NP_001341535.1:p.Asn451=
NM_001354607.2:c.1305C>T NP_001341536.1:p.Asn435=
NM_001354608.2:c.1200C>T NP_001341537.1:p.Asn400=
NM_198158.3:c.1035C>T NP_937801.1:p.Asn345=
NM_198159.3:c.1356C>T NP_937802.1:p.Asn452=
NM_198177.3:c.1308C>T NP_937820.1:p.Asn436=
NM_198178.3:c.867C>T NP_937821.2:p.Asn289=
NM_000248.4:c.1053C>T MANE Plus Clinical NP_000239.1:p.Asn351=
NM_006722.3:c.1353C>T NP_006713.1:p.Asn451=