Canonical Allele Identifier: CA353559333
Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 2947777
ClinVar RCV Id: RCV003804407

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964859C>G , CM000665.2:g.69964859C>G GRCh38
NC_000003.11:g.70014010C>G , CM000665.1:g.70014010C>G GRCh37
NC_000003.10:g.70096700C>G NCBI36
NG_011631.1:g.230378C>G , LRG_776:g.230378C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1126C>G ENSP00000324443.5:p.Gln376Glu
ENST00000687384.1:c.1123C>G ENSP00000510225.1:p.Gln375Glu
ENST00000689390.1:n.1348C>G
ENST00000693031.1:c.1099C>G ENSP00000509845.1:p.Gln367Glu
ENST00000693549.1:c.1114-55C>G ENSP00000509358.1:n.1114-55C>G
ENST00000314589.10:c.1126C>G ENSP00000324443.5:p.Gln376Glu
ENST00000352241.9:c.1192C>G MANE Select ENSP00000295600.8:p.Gln398Glu
ENST00000394351.9:c.871C>G MANE Plus Clinical ENSP00000377880.3:p.Gln291Glu
ENST00000448226.9:c.1171C>G ENSP00000391803.3:p.Gln391Glu
ENST00000642352.1:c.1174C>G ENSP00000494105.1:p.Gln392Glu
ENST00000314557.10:c.853C>G ENSP00000324246.6:p.Gln285Glu
ENST00000314589.9:c.1126C>G ENSP00000324443.5:p.Gln376Glu
ENST00000328528.10:c.1171C>G ENSP00000327867.6:p.Gln391Glu
ENST00000352241.8:c.1174C>G ENSP00000295600.7:p.Gln392Glu
ENST00000394351.7:c.871C>G ENSP00000377880.3:p.Gln291Glu
ENST00000448226.6:c.1192C>G ENSP00000391803.2:p.Gln398Glu
ENST00000472437.5:c.1018C>G ENSP00000418845.1:p.Gln340Glu
ENST00000478490.5:c.*518C>G ENSP00000433487.1:n.*518C>G
ENST00000531774.1:c.685C>G ENSP00000435909.1:p.Gln229Glu
NM_000248.3:c.871C>G , LRG_776t1:c.871C>G NP_000239.1:p.Gln291Glu
NM_001184967.1:c.1018C>G NP_001171896.1:p.Gln340Glu
NM_006722.2:c.1171C>G NP_006713.1:p.Gln391Glu
NM_198158.2:c.853C>G NP_937801.1:p.Gln285Glu
NM_198159.2:c.1174C>G NP_937802.1:p.Gln392Glu
NM_198177.2:c.1126C>G NP_937820.1:p.Gln376Glu
NM_198178.2:c.685C>G NP_937821.2:p.Gln229Glu
XM_005264754.1:c.1192C>G XP_005264811.1:p.Gln398Glu
XM_005264755.2:c.1144C>G XP_005264812.1:p.Gln382Glu
XM_006713164.2:c.1036C>G XP_006713227.1:p.Gln346Glu
XM_011533722.1:c.1189C>G XP_011532024.1:p.Gln397Glu
XM_011533723.1:c.1141C>G XP_011532025.1:p.Gln381Glu
XM_011533724.1:c.1036C>G XP_011532026.1:p.Gln346Glu
XM_011533725.1:c.1024C>G XP_011532027.1:p.Gln342Glu
XM_011533726.1:c.1006C>G XP_011532028.1:p.Gln336Glu
NM_001354604.1:c.1192C>G NP_001341533.1:p.Gln398Glu
NM_001354605.1:c.1189C>G NP_001341534.1:p.Gln397Glu
NM_001354606.1:c.1171C>G NP_001341535.1:p.Gln391Glu
NM_001354607.1:c.1123C>G NP_001341536.1:p.Gln375Glu
NM_001354608.1:c.1018C>G NP_001341537.1:p.Gln340Glu
NM_001184967.2:c.1018C>G NP_001171896.1:p.Gln340Glu
NM_001354604.2:c.1192C>G MANE Select NP_001341533.1:p.Gln398Glu
NM_001354605.2:c.1189C>G NP_001341534.1:p.Gln397Glu
NM_001354606.2:c.1171C>G NP_001341535.1:p.Gln391Glu
NM_001354607.2:c.1123C>G NP_001341536.1:p.Gln375Glu
NM_001354608.2:c.1018C>G NP_001341537.1:p.Gln340Glu
NM_198158.3:c.853C>G NP_937801.1:p.Gln285Glu
NM_198159.3:c.1174C>G NP_937802.1:p.Gln392Glu
NM_198177.3:c.1126C>G NP_937820.1:p.Gln376Glu
NM_198178.3:c.685C>G NP_937821.2:p.Gln229Glu
NM_000248.4:c.871C>G MANE Plus Clinical NP_000239.1:p.Gln291Glu
NM_006722.3:c.1171C>G NP_006713.1:p.Gln391Glu