Canonical Allele Identifier: CA162922

Gene: XPC

Linked Data

• ClinVar Variation Id: 253
• ClinVar RCV Id: RCV000000277 ; RCV000122346 ; RCV000885048 ; RCV002257356 ; RCV003904788
• dbSNP Id: rs74737358
• ExAC: 3:14200382 G / T
• gnomAD v2: 3-14200382-G-T
• gnomAD v3: 3-14158882-G-T
• gnomAD v4: 3-14158882-G-T
• MyVariant Identifiers: chr3:g.14200382G>T (hg19) ; chr3:g.14158882G>T (hg38)
• PubMed: PMID:8298653 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158882G>T , CM000665.2:g.14158882G>T	GRCh38
NC_000003.11:g.14200382G>T , CM000665.1:g.14200382G>T	GRCh37
NC_000003.10:g.14175386G>T	NCBI36
NG_011763.1:g.24791C>A , LRG_472:g.24791C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000285021.12:c.1001C>A MANE Select	ENSP00000285021.8:p.Pro334His
ENST00000285021.11:c.1001C>A	ENSP00000285021.7:p.Pro334His
ENST00000476581.6:c.*454C>A	ENSP00000424548.1:n.*454C>A
ENST00000477324.6:n.479C>A
NM_004628.4:c.1001C>A , LRG_472t1:c.1001C>A	NP_004619.3:p.Pro334His
NR_027299.1:n.981C>A
XM_011534092.1:c.1001C>A	XP_011532394.1:p.Pro334His
XM_011534093.1:c.1001C>A	XP_011532395.1:p.Pro334His
NM_001354726.1:c.422C>A	NP_001341655.1:p.Pro141His
NM_001354727.1:c.1001C>A	NP_001341656.1:p.Pro334His
NM_001354729.1:c.983C>A	NP_001341658.1:p.Pro328His
NM_001354730.1:c.1001C>A	NP_001341659.1:p.Pro334His
NR_148950.1:n.1105C>A
NR_148951.1:n.981C>A
XR_001740256.2:n.1034C>A
XR_002959580.1:n.1034C>A
XR_002959581.1:n.1034C>A
NM_001354727.2:c.1001C>A	NP_001341656.1:p.Pro334His
NM_004628.5:c.1001C>A MANE Select	NP_004619.3:p.Pro334His
NR_148950.2:n.1034C>A
NR_148951.2:n.910C>A
NM_001354726.2:c.422C>A	NP_001341655.1:p.Pro141His
NM_001354729.2:c.983C>A	NP_001341658.1:p.Pro328His
NM_001354730.2:c.1001C>A	NP_001341659.1:p.Pro334His