Canonical Allele Identifier: CA353559572

Gene: MITF

Linked Data

• gnomAD v3: 3-69964973-C-G
• gnomAD v4: 3-69964973-C-G
• MyVariant Identifiers: chr3:g.70014124C>G (hg19) ; chr3:g.69964973C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964973C>G , CM000665.2:g.69964973C>G	GRCh38
NC_000003.11:g.70014124C>G , CM000665.1:g.70014124C>G	GRCh37
NC_000003.10:g.70096814C>G	NCBI36
NG_011631.1:g.230492C>G , LRG_776:g.230492C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1240C>G	ENSP00000324443.5:p.Leu414Val
ENST00000687384.1:c.1237C>G	ENSP00000510225.1:p.Leu413Val
ENST00000689390.1:n.1462C>G
ENST00000693031.1:c.1213C>G	ENSP00000509845.1:p.Leu405Val
ENST00000693549.1:c.*51C>G	ENSP00000509358.1:n.*51C>G
ENST00000314589.10:c.1240C>G	ENSP00000324443.5:p.Leu414Val
ENST00000352241.9:c.1306C>G MANE Select	ENSP00000295600.8:p.Leu436Val
ENST00000394351.9:c.985C>G MANE Plus Clinical	ENSP00000377880.3:p.Leu329Val
ENST00000448226.9:c.1285C>G	ENSP00000391803.3:p.Leu429Val
ENST00000642352.1:c.1288C>G	ENSP00000494105.1:p.Leu430Val
ENST00000314557.10:c.967C>G	ENSP00000324246.6:p.Leu323Val
ENST00000314589.9:c.1240C>G	ENSP00000324443.5:p.Leu414Val
ENST00000328528.10:c.1285C>G	ENSP00000327867.6:p.Leu429Val
ENST00000352241.8:c.1288C>G	ENSP00000295600.7:p.Leu430Val
ENST00000394351.7:c.985C>G	ENSP00000377880.3:p.Leu329Val
ENST00000448226.6:c.1306C>G	ENSP00000391803.2:p.Leu436Val
ENST00000472437.5:c.1132C>G	ENSP00000418845.1:p.Leu378Val
ENST00000478490.5:c.*632C>G	ENSP00000433487.1:n.*632C>G
ENST00000531774.1:c.799C>G	ENSP00000435909.1:p.Leu267Val
NM_000248.3:c.985C>G , LRG_776t1:c.985C>G	NP_000239.1:p.Leu329Val
NM_001184967.1:c.1132C>G	NP_001171896.1:p.Leu378Val
NM_006722.2:c.1285C>G	NP_006713.1:p.Leu429Val
NM_198158.2:c.967C>G	NP_937801.1:p.Leu323Val
NM_198159.2:c.1288C>G	NP_937802.1:p.Leu430Val
NM_198177.2:c.1240C>G	NP_937820.1:p.Leu414Val
NM_198178.2:c.799C>G	NP_937821.2:p.Leu267Val
XM_005264754.1:c.1306C>G	XP_005264811.1:p.Leu436Val
XM_005264755.2:c.1258C>G	XP_005264812.1:p.Leu420Val
XM_006713164.2:c.1150C>G	XP_006713227.1:p.Leu384Val
XM_011533722.1:c.1303C>G	XP_011532024.1:p.Leu435Val
XM_011533723.1:c.1255C>G	XP_011532025.1:p.Leu419Val
XM_011533724.1:c.1150C>G	XP_011532026.1:p.Leu384Val
XM_011533725.1:c.1138C>G	XP_011532027.1:p.Leu380Val
XM_011533726.1:c.1120C>G	XP_011532028.1:p.Leu374Val
NM_001354604.1:c.1306C>G	NP_001341533.1:p.Leu436Val
NM_001354605.1:c.1303C>G	NP_001341534.1:p.Leu435Val
NM_001354606.1:c.1285C>G	NP_001341535.1:p.Leu429Val
NM_001354607.1:c.1237C>G	NP_001341536.1:p.Leu413Val
NM_001354608.1:c.1132C>G	NP_001341537.1:p.Leu378Val
NM_001184967.2:c.1132C>G	NP_001171896.1:p.Leu378Val
NM_001354604.2:c.1306C>G MANE Select	NP_001341533.1:p.Leu436Val
NM_001354605.2:c.1303C>G	NP_001341534.1:p.Leu435Val
NM_001354606.2:c.1285C>G	NP_001341535.1:p.Leu429Val
NM_001354607.2:c.1237C>G	NP_001341536.1:p.Leu413Val
NM_001354608.2:c.1132C>G	NP_001341537.1:p.Leu378Val
NM_198158.3:c.967C>G	NP_937801.1:p.Leu323Val
NM_198159.3:c.1288C>G	NP_937802.1:p.Leu430Val
NM_198177.3:c.1240C>G	NP_937820.1:p.Leu414Val
NM_198178.3:c.799C>G	NP_937821.2:p.Leu267Val
NM_000248.4:c.985C>G MANE Plus Clinical	NP_000239.1:p.Leu329Val
NM_006722.3:c.1285C>G	NP_006713.1:p.Leu429Val