Canonical Allele Identifier: CA2267068

Gene: XPC

Linked Data

• ClinVar Variation Id: 259471
• ClinVar RCV Id: RCV000248804 ; RCV001683045 ; RCV002244616 ; RCV003316416
• dbSNP Id: rs2733532
• ExAC: 3:14187699 T / C
• gnomAD v2: 3-14187699-T-C
• gnomAD v3: 3-14146199-T-C
• gnomAD v4: 3-14146199-T-C
• MyVariant Identifiers: chr3:g.14187699T>C (hg19) ; chr3:g.14146199T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14146199T>C , CM000665.2:g.14146199T>C	GRCh38
NC_000003.11:g.14187699T>C , CM000665.1:g.14187699T>C	GRCh37
NC_000003.10:g.14162700T>C	NCBI36
NG_011763.1:g.37474A>G , LRG_472:g.37474A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2605-40A>G MANE Select	ENSP00000285021.8:n.2605-40A>G
ENST00000285021.11:c.2605-40A>G	ENSP00000285021.7:n.2605-40A>G
ENST00000476581.6:c.*2058-40A>G	ENSP00000424548.1:n.*2058-40A>G
ENST00000601399.3:n.689+516T>C
ENST00000608606.1:c.598+516T>C
ENST00000626721.1:n.588+516T>C
NM_004628.4:c.2605-40A>G , LRG_472t1:c.2605-40A>G	NP_004619.3:n.2605-40A>G
NR_027299.1:n.2585-40A>G
NM_001354726.1:c.2026-40A>G	NP_001341655.1:n.2026-40A>G
NM_001354727.1:c.2599-40A>G	NP_001341656.1:n.2599-40A>G
NM_001354729.1:c.2587-40A>G	NP_001341658.1:n.2587-40A>G
NM_001354730.1:c.2359-40A>G	NP_001341659.1:n.2359-40A>G
NR_148950.1:n.2548-40A>G
NR_148951.1:n.2424-40A>G
XR_001740256.2:n.2912-40A>G
XR_002959580.1:n.2987-40A>G
XR_002959581.1:n.4255-40A>G
NM_001354727.2:c.2599-40A>G	NP_001341656.1:n.2599-40A>G
NM_004628.5:c.2605-40A>G MANE Select	NP_004619.3:n.2605-40A>G
NR_148950.2:n.2477-40A>G
NR_148951.2:n.2353-40A>G
NM_001354726.2:c.2026-40A>G	NP_001341655.1:n.2026-40A>G
NM_001354729.2:c.2587-40A>G	NP_001341658.1:n.2587-40A>G
NM_001354730.2:c.2359-40A>G	NP_001341659.1:n.2359-40A>G