Canonical Allele Identifier: CA10616578

Gene: MITF

Linked Data

• ClinVar Variation Id: 346514
• ClinVar RCV Id: RCV000306751 ; RCV000345273
• dbSNP Id: rs573364713
• gnomAD v2: 3-70014955-T-C
• gnomAD v3: 3-69965804-T-C
• gnomAD v4: 3-69965804-T-C
• MyVariant Identifiers: chr3:g.70014955T>C (hg19) ; chr3:g.69965804T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965804T>C , CM000665.2:g.69965804T>C	GRCh38
NC_000003.11:g.70014955T>C , CM000665.1:g.70014955T>C	GRCh37
NC_000003.10:g.70097645T>C	NCBI36
NG_011631.1:g.231323T>C , LRG_776:g.231323T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.*556T>C	ENSP00000324443.5:n.*556T>C
ENST00000314589.10:c.*556T>C	ENSP00000324443.5:n.*556T>C
ENST00000352241.9:c.*556T>C MANE Select	ENSP00000295600.8:n.*556T>C
ENST00000394351.9:c.*556T>C MANE Plus Clinical	ENSP00000377880.3:n.*556T>C
ENST00000448226.9:c.*556T>C	ENSP00000391803.3:n.*556T>C
ENST00000642352.1:c.*556T>C	ENSP00000494105.1:n.*556T>C
ENST00000328528.10:c.*556T>C	ENSP00000327867.6:n.*556T>C
ENST00000352241.8:c.*556T>C	ENSP00000295600.7:n.*556T>C
ENST00000394351.7:c.*556T>C	ENSP00000377880.3:n.*556T>C
ENST00000448226.6:c.*556T>C	ENSP00000391803.2:n.*556T>C
NM_000248.3:c.*556T>C , LRG_776t1:c.*556T>C	NP_000239.1:n.*556T>C
NM_001184967.1:c.*556T>C	NP_001171896.1:n.*556T>C
NM_006722.2:c.*556T>C	NP_006713.1:n.*556T>C
NM_198158.2:c.*556T>C	NP_937801.1:n.*556T>C
NM_198159.2:c.*556T>C	NP_937802.1:n.*556T>C
NM_198177.2:c.*556T>C	NP_937820.1:n.*556T>C
NM_198178.2:c.*556T>C	NP_937821.2:n.*556T>C
XM_005264754.1:c.*556T>C	XP_005264811.1:n.*556T>C
XM_005264755.2:c.*556T>C	XP_005264812.1:n.*556T>C
XM_006713164.2:c.*556T>C	XP_006713227.1:n.*556T>C
XM_011533722.1:c.*556T>C	XP_011532024.1:n.*556T>C
XM_011533723.1:c.*556T>C	XP_011532025.1:n.*556T>C
XM_011533724.1:c.*556T>C	XP_011532026.1:n.*556T>C
XM_011533725.1:c.*556T>C	XP_011532027.1:n.*556T>C
XM_011533726.1:c.*556T>C	XP_011532028.1:n.*556T>C
NM_001354604.1:c.*556T>C	NP_001341533.1:n.*556T>C
NM_001354605.1:c.*556T>C	NP_001341534.1:n.*556T>C
NM_001354606.1:c.*556T>C	NP_001341535.1:n.*556T>C
NM_001354607.1:c.*556T>C	NP_001341536.1:n.*556T>C
NM_001354608.1:c.*556T>C	NP_001341537.1:n.*556T>C
NM_001184967.2:c.*556T>C	NP_001171896.1:n.*556T>C
NM_001354604.2:c.*556T>C MANE Select	NP_001341533.1:n.*556T>C
NM_001354605.2:c.*556T>C	NP_001341534.1:n.*556T>C
NM_001354606.2:c.*556T>C	NP_001341535.1:n.*556T>C
NM_001354607.2:c.*556T>C	NP_001341536.1:n.*556T>C
NM_001354608.2:c.*556T>C	NP_001341537.1:n.*556T>C
NM_198158.3:c.*556T>C	NP_937801.1:n.*556T>C
NM_198159.3:c.*556T>C	NP_937802.1:n.*556T>C
NM_198177.3:c.*556T>C	NP_937820.1:n.*556T>C
NM_198178.3:c.*556T>C	NP_937821.2:n.*556T>C
NM_000248.4:c.*556T>C MANE Plus Clinical	NP_000239.1:n.*556T>C
NM_006722.3:c.*556T>C	NP_006713.1:n.*556T>C