Canonical Allele Identifier: CA199619

Gene: XPC

Linked Data

• ClinVar Variation Id: 190215
• ClinVar RCV Id: RCV000170436 ; RCV000331098 ; RCV000380504 ; RCV001150524
• dbSNP Id: rs2228001
• ExAC: 3:14187449 G / T
• gnomAD v2: 3-14187449-G-T
• gnomAD v3: 3-14145949-G-T
• gnomAD v4: 3-14145949-G-T
• MyVariant Identifiers: chr3:g.14187449G>T (hg19) ; chr3:g.14145949G>T (hg38)
• PubMed: PMID:19434073 ; PMID:21047201 ; PMID:22992668

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14145949G>T , CM000665.2:g.14145949G>T	GRCh38
NC_000003.11:g.14187449G>T , CM000665.1:g.14187449G>T	GRCh37
NC_000003.10:g.14162450G>T	NCBI36
NG_011763.1:g.37724C>A , LRG_472:g.37724C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000285021.12:c.2815C>A MANE Select	ENSP00000285021.8:p.Gln939Lys
ENST00000285021.11:c.2815C>A	ENSP00000285021.7:p.Gln939Lys
ENST00000476581.6:c.*2268C>A	ENSP00000424548.1:n.*2268C>A
ENST00000601399.3:n.689+266G>T
ENST00000608606.1:c.598+266G>T
ENST00000626721.1:n.588+266G>T
NM_004628.4:c.2815C>A , LRG_472t1:c.2815C>A	NP_004619.3:p.Gln939Lys
NR_027299.1:n.2795C>A
NM_001354726.1:c.2236C>A	NP_001341655.1:p.Gln746Lys
NM_001354727.1:c.2809C>A	NP_001341656.1:p.Gln937Lys
NM_001354729.1:c.2797C>A	NP_001341658.1:p.Gln933Lys
NM_001354730.1:c.2569C>A	NP_001341659.1:p.Gln857Lys
NR_148950.1:n.2758C>A
NR_148951.1:n.2634C>A
XR_001740256.2:n.3122C>A
XR_002959580.1:n.3197C>A
XR_002959581.1:n.4465C>A
NM_001354727.2:c.2809C>A	NP_001341656.1:p.Gln937Lys
NM_004628.5:c.2815C>A MANE Select	NP_004619.3:p.Gln939Lys
NR_148950.2:n.2687C>A
NR_148951.2:n.2563C>A
NM_001354726.2:c.2236C>A	NP_001341655.1:p.Gln746Lys
NM_001354729.2:c.2797C>A	NP_001341658.1:p.Gln933Lys
NM_001354730.2:c.2569C>A	NP_001341659.1:p.Gln857Lys