Canonical Allele Identifier: CA274757

Gene: XPC

Linked Data

• ClinVar Variation Id: 190213
• ClinVar RCV Id: RCV000170434 ; RCV001071689 ; RCV000590804 ; RCV003954993
• dbSNP Id: rs754673606
• ExAC: 3:14190232 C / G
• gnomAD v2: 3-14190232-C-G
• gnomAD v3: 3-14148732-C-G
• gnomAD v4: 3-14148732-C-G
• MyVariant Identifiers: chr3:g.14190232C>G (hg19) ; chr3:g.14148732C>G (hg38)
• PubMed: PMID:21482201 ; PMID:26884178

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148732C>G , CM000665.2:g.14148732C>G	GRCh38
NC_000003.11:g.14190232C>G , CM000665.1:g.14190232C>G	GRCh37
NC_000003.10:g.14165233C>G	NCBI36
NG_011763.1:g.34941G>C , LRG_472:g.34941G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2251-1G>C MANE Select	ENSP00000285021.8:n.2251-1G>C
ENST00000285021.11:c.2251-1G>C	ENSP00000285021.7:n.2251-1G>C
ENST00000427795.2:n.116-1G>C
ENST00000476581.6:c.*1704-1G>C	ENSP00000424548.1:n.*1704-1G>C
NM_004628.4:c.2251-1G>C , LRG_472t1:c.2251-1G>C	NP_004619.3:n.2251-1G>C
NR_027299.1:n.2231-1G>C
XM_011534092.1:c.2251-1G>C	XP_011532394.1:n.2251-1G>C
NM_001354726.1:c.1672-1G>C	NP_001341655.1:n.1672-1G>C
NM_001354727.1:c.2245-1G>C	NP_001341656.1:n.2245-1G>C
NM_001354729.1:c.2233-1G>C	NP_001341658.1:n.2233-1G>C
NM_001354730.1:c.2005-1G>C	NP_001341659.1:n.2005-1G>C
NR_148950.1:n.2194-1G>C
NR_148951.1:n.2070-1G>C
XR_001740256.2:n.2284-1G>C
XR_002959580.1:n.2284-1G>C
XR_002959581.1:n.3901-1G>C
NM_001354727.2:c.2245-1G>C	NP_001341656.1:n.2245-1G>C
NM_004628.5:c.2251-1G>C MANE Select	NP_004619.3:n.2251-1G>C
NR_148950.2:n.2123-1G>C
NR_148951.2:n.1999-1G>C
NM_001354726.2:c.1672-1G>C	NP_001341655.1:n.1672-1G>C
NM_001354729.2:c.2233-1G>C	NP_001341658.1:n.2233-1G>C
NM_001354730.2:c.2005-1G>C	NP_001341659.1:n.2005-1G>C