Canonical Allele Identifier: CA199618

Gene: XPC

Linked Data

• ClinVar Variation Id: 190214
• ClinVar RCV Id: RCV000170435 ; RCV000301008 ; RCV000588913 ; RCV003316072
• dbSNP Id: rs2279017
• ExAC: 3:14190237 T / G
• gnomAD v2: 3-14190237-T-G
• gnomAD v3: 3-14148737-T-G
• gnomAD v4: 3-14148737-T-G
• MyVariant Identifiers: chr3:g.14190237T>G (hg19) ; chr3:g.14148737T>G (hg38)
• PubMed: PMID:12177305

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148737T>G , CM000665.2:g.14148737T>G	GRCh38
NC_000003.11:g.14190237T>G , CM000665.1:g.14190237T>G	GRCh37
NC_000003.10:g.14165238T>G	NCBI36
NG_011763.1:g.34936A>C , LRG_472:g.34936A>C

Transcript Alleles

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