Canonical Allele Identifier: CA69742180

Gene: XPC

Linked Data

• ClinVar Variation Id: 2687864
• ClinVar RCV Id: RCV003492896
• dbSNP Id: rs928148829
• gnomAD v2: 3-14190134-G-A
• gnomAD v3: 3-14148634-G-A
• gnomAD v4: 3-14148634-G-A
• MyVariant Identifiers: chr3:g.14190134G>A (hg19) ; chr3:g.14148634G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148634G>A , CM000665.2:g.14148634G>A	GRCh38
NC_000003.11:g.14190134G>A , CM000665.1:g.14190134G>A	GRCh37
NC_000003.10:g.14165135G>A	NCBI36
NG_011763.1:g.35039C>T , LRG_472:g.35039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2348C>T MANE Select	ENSP00000285021.8:p.Ala783Val
ENST00000285021.11:c.2348C>T	ENSP00000285021.7:p.Ala783Val
ENST00000427795.2:n.213C>T
ENST00000476581.6:c.*1801C>T	ENSP00000424548.1:n.*1801C>T
NM_004628.4:c.2348C>T , LRG_472t1:c.2348C>T	NP_004619.3:p.Ala783Val
NR_027299.1:n.2328C>T
XM_011534092.1:c.2348C>T	XP_011532394.1:p.Ala783Val
NM_001354726.1:c.1769C>T	NP_001341655.1:p.Ala590Val
NM_001354727.1:c.2342C>T	NP_001341656.1:p.Ala781Val
NM_001354729.1:c.2330C>T	NP_001341658.1:p.Ala777Val
NM_001354730.1:c.2102C>T	NP_001341659.1:p.Ala701Val
NR_148950.1:n.2291C>T
NR_148951.1:n.2167C>T
XR_001740256.2:n.2381C>T
XR_002959580.1:n.2381C>T
XR_002959581.1:n.3998C>T
NM_001354727.2:c.2342C>T	NP_001341656.1:p.Ala781Val
NM_004628.5:c.2348C>T MANE Select	NP_004619.3:p.Ala783Val
NR_148950.2:n.2220C>T
NR_148951.2:n.2096C>T
NM_001354726.2:c.1769C>T	NP_001341655.1:p.Ala590Val
NM_001354729.2:c.2330C>T	NP_001341658.1:p.Ala777Val
NM_001354730.2:c.2102C>T	NP_001341659.1:p.Ala701Val