Canonical Allele Identifier: CA2490694

Gene: MITF

Linked Data

• ClinVar Variation Id: 2921374
• ClinVar RCV Id: RCV003779461
• dbSNP Id: rs752915964
• ExAC: 3:70014355 C / G
• gnomAD v2: 3-70014355-C-G
• gnomAD v4: 3-69965204-C-G
• MyVariant Identifiers: chr3:g.70014355C>G (hg19) ; chr3:g.69965204C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965204C>G , CM000665.2:g.69965204C>G	GRCh38
NC_000003.11:g.70014355C>G , CM000665.1:g.70014355C>G	GRCh37
NC_000003.10:g.70097045C>G	NCBI36
NG_011631.1:g.230723C>G , LRG_776:g.230723C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1471C>G	ENSP00000324443.5:p.Arg491Gly
ENST00000687384.1:c.1468C>G	ENSP00000510225.1:p.Arg490Gly
ENST00000689390.1:n.1693C>G
ENST00000693031.1:c.1444C>G	ENSP00000509845.1:p.Arg482Gly
ENST00000693549.1:c.*282C>G	ENSP00000509358.1:n.*282C>G
ENST00000314589.10:c.1471C>G	ENSP00000324443.5:p.Arg491Gly
ENST00000352241.9:c.1537C>G MANE Select	ENSP00000295600.8:p.Arg513Gly
ENST00000394351.9:c.1216C>G MANE Plus Clinical	ENSP00000377880.3:p.Arg406Gly
ENST00000448226.9:c.1516C>G	ENSP00000391803.3:p.Arg506Gly
ENST00000642352.1:c.1519C>G	ENSP00000494105.1:p.Arg507Gly
ENST00000314557.10:c.1198C>G	ENSP00000324246.6:p.Arg400Gly
ENST00000314589.9:c.1471C>G	ENSP00000324443.5:p.Arg491Gly
ENST00000328528.10:c.1516C>G	ENSP00000327867.6:p.Arg506Gly
ENST00000352241.8:c.1519C>G	ENSP00000295600.7:p.Arg507Gly
ENST00000394351.7:c.1216C>G	ENSP00000377880.3:p.Arg406Gly
ENST00000448226.6:c.1537C>G	ENSP00000391803.2:p.Arg513Gly
ENST00000472437.5:c.1363C>G	ENSP00000418845.1:p.Arg455Gly
ENST00000478490.5:c.*863C>G	ENSP00000433487.1:n.*863C>G
ENST00000531774.1:c.1030C>G	ENSP00000435909.1:p.Arg344Gly
NM_000248.3:c.1216C>G , LRG_776t1:c.1216C>G	NP_000239.1:p.Arg406Gly
NM_001184967.1:c.1363C>G	NP_001171896.1:p.Arg455Gly
NM_006722.2:c.1516C>G	NP_006713.1:p.Arg506Gly
NM_198158.2:c.1198C>G	NP_937801.1:p.Arg400Gly
NM_198159.2:c.1519C>G	NP_937802.1:p.Arg507Gly
NM_198177.2:c.1471C>G	NP_937820.1:p.Arg491Gly
NM_198178.2:c.1030C>G	NP_937821.2:p.Arg344Gly
XM_005264754.1:c.1537C>G	XP_005264811.1:p.Arg513Gly
XM_005264755.2:c.1489C>G	XP_005264812.1:p.Arg497Gly
XM_006713164.2:c.1381C>G	XP_006713227.1:p.Arg461Gly
XM_011533722.1:c.1534C>G	XP_011532024.1:p.Arg512Gly
XM_011533723.1:c.1486C>G	XP_011532025.1:p.Arg496Gly
XM_011533724.1:c.1381C>G	XP_011532026.1:p.Arg461Gly
XM_011533725.1:c.1369C>G	XP_011532027.1:p.Arg457Gly
XM_011533726.1:c.1351C>G	XP_011532028.1:p.Arg451Gly
NM_001354604.1:c.1537C>G	NP_001341533.1:p.Arg513Gly
NM_001354605.1:c.1534C>G	NP_001341534.1:p.Arg512Gly
NM_001354606.1:c.1516C>G	NP_001341535.1:p.Arg506Gly
NM_001354607.1:c.1468C>G	NP_001341536.1:p.Arg490Gly
NM_001354608.1:c.1363C>G	NP_001341537.1:p.Arg455Gly
NM_001184967.2:c.1363C>G	NP_001171896.1:p.Arg455Gly
NM_001354604.2:c.1537C>G MANE Select	NP_001341533.1:p.Arg513Gly
NM_001354605.2:c.1534C>G	NP_001341534.1:p.Arg512Gly
NM_001354606.2:c.1516C>G	NP_001341535.1:p.Arg506Gly
NM_001354607.2:c.1468C>G	NP_001341536.1:p.Arg490Gly
NM_001354608.2:c.1363C>G	NP_001341537.1:p.Arg455Gly
NM_198158.3:c.1198C>G	NP_937801.1:p.Arg400Gly
NM_198159.3:c.1519C>G	NP_937802.1:p.Arg507Gly
NM_198177.3:c.1471C>G	NP_937820.1:p.Arg491Gly
NM_198178.3:c.1030C>G	NP_937821.2:p.Arg344Gly
NM_000248.4:c.1216C>G MANE Plus Clinical	NP_000239.1:p.Arg406Gly
NM_006722.3:c.1516C>G	NP_006713.1:p.Arg506Gly