Canonical Allele Identifier: CA2490481

Gene: MITF

Linked Data

• ClinVar Variation Id: 2047039
• ClinVar RCV Id: RCV002904001 ; RCV003320903
• dbSNP Id: rs201810369
• ExAC: 3:69998256 C / G
• gnomAD v2: 3-69998256-C-G
• gnomAD v3: 3-69949105-C-G
• gnomAD v4: 3-69949105-C-G
• MyVariant Identifiers: chr3:g.69998256C>G (hg19) ; chr3:g.69949105C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69949105C>G , CM000665.2:g.69949105C>G	GRCh38
NC_000003.11:g.69998256C>G , CM000665.1:g.69998256C>G	GRCh37
NC_000003.10:g.70080946C>G	NCBI36
NG_011631.1:g.214624C>G , LRG_776:g.214624C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.769C>G	ENSP00000324443.5:p.Pro257Ala
ENST00000687384.1:c.766C>G	ENSP00000510225.1:p.Pro256Ala
ENST00000689390.1:n.991C>G
ENST00000693031.1:c.742C>G	ENSP00000509845.1:p.Pro248Ala
ENST00000693549.1:c.769C>G	ENSP00000509358.1:p.Pro257Ala
ENST00000314589.10:c.769C>G	ENSP00000324443.5:p.Pro257Ala
ENST00000352241.9:c.817C>G MANE Select	ENSP00000295600.8:p.Pro273Ala
ENST00000394351.9:c.496C>G MANE Plus Clinical	ENSP00000377880.3:p.Pro166Ala
ENST00000448226.9:c.814C>G	ENSP00000391803.3:p.Pro272Ala
ENST00000642352.1:c.817C>G	ENSP00000494105.1:p.Pro273Ala
ENST00000314557.10:c.496C>G	ENSP00000324246.6:p.Pro166Ala
ENST00000314589.9:c.769C>G	ENSP00000324443.5:p.Pro257Ala
ENST00000328528.10:c.814C>G	ENSP00000327867.6:p.Pro272Ala
ENST00000352241.8:c.817C>G	ENSP00000295600.7:p.Pro273Ala
ENST00000394351.7:c.496C>G	ENSP00000377880.3:p.Pro166Ala
ENST00000448226.6:c.817C>G	ENSP00000391803.2:p.Pro273Ala
ENST00000451708.5:c.769C>G	ENSP00000398639.1:p.Pro257Ala
ENST00000472437.5:c.661C>G	ENSP00000418845.1:p.Pro221Ala
ENST00000478490.5:c.*143C>G	ENSP00000433487.1:n.*143C>G
ENST00000531774.1:c.328C>G	ENSP00000435909.1:p.Pro110Ala
NM_000248.3:c.496C>G , LRG_776t1:c.496C>G	NP_000239.1:p.Pro166Ala
NM_001184967.1:c.661C>G	NP_001171896.1:p.Pro221Ala
NM_006722.2:c.814C>G	NP_006713.1:p.Pro272Ala
NM_198158.2:c.496C>G	NP_937801.1:p.Pro166Ala
NM_198159.2:c.817C>G	NP_937802.1:p.Pro273Ala
NM_198177.2:c.769C>G	NP_937820.1:p.Pro257Ala
NM_198178.2:c.328C>G	NP_937821.2:p.Pro110Ala
XM_005264754.1:c.817C>G	XP_005264811.1:p.Pro273Ala
XM_005264755.2:c.769C>G	XP_005264812.1:p.Pro257Ala
XM_006713164.2:c.661C>G	XP_006713227.1:p.Pro221Ala
XM_011533722.1:c.814C>G	XP_011532024.1:p.Pro272Ala
XM_011533723.1:c.766C>G	XP_011532025.1:p.Pro256Ala
XM_011533724.1:c.661C>G	XP_011532026.1:p.Pro221Ala
XM_011533725.1:c.649C>G	XP_011532027.1:p.Pro217Ala
XM_011533726.1:c.649C>G	XP_011532028.1:p.Pro217Ala
NM_001354604.1:c.817C>G	NP_001341533.1:p.Pro273Ala
NM_001354605.1:c.814C>G	NP_001341534.1:p.Pro272Ala
NM_001354606.1:c.814C>G	NP_001341535.1:p.Pro272Ala
NM_001354607.1:c.766C>G	NP_001341536.1:p.Pro256Ala
NM_001354608.1:c.661C>G	NP_001341537.1:p.Pro221Ala
NM_001184967.2:c.661C>G	NP_001171896.1:p.Pro221Ala
NM_001354604.2:c.817C>G MANE Select	NP_001341533.1:p.Pro273Ala
NM_001354605.2:c.814C>G	NP_001341534.1:p.Pro272Ala
NM_001354606.2:c.814C>G	NP_001341535.1:p.Pro272Ala
NM_001354607.2:c.766C>G	NP_001341536.1:p.Pro256Ala
NM_001354608.2:c.661C>G	NP_001341537.1:p.Pro221Ala
NM_198158.3:c.496C>G	NP_937801.1:p.Pro166Ala
NM_198159.3:c.817C>G	NP_937802.1:p.Pro273Ala
NM_198177.3:c.769C>G	NP_937820.1:p.Pro257Ala
NM_198178.3:c.328C>G	NP_937821.2:p.Pro110Ala
NM_000248.4:c.496C>G MANE Plus Clinical	NP_000239.1:p.Pro166Ala
NM_006722.3:c.814C>G	NP_006713.1:p.Pro272Ala