Canonical Allele Identifier: CA2266991

Gene: XPC

Linked Data

• ClinVar Variation Id: 343559
• ClinVar RCV Id: RCV000356898 ; RCV000384332 ; RCV001149014
• dbSNP Id: rs377250919
• ExAC: 3:14187308 C / T
• gnomAD v2: 3-14187308-C-T
• gnomAD v3: 3-14145808-C-T
• gnomAD v4: 3-14145808-C-T
• MyVariant Identifiers: chr3:g.14187308C>T (hg19) ; chr3:g.14145808C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14145808C>T , CM000665.2:g.14145808C>T	GRCh38
NC_000003.11:g.14187308C>T , CM000665.1:g.14187308C>T	GRCh37
NC_000003.10:g.14162309C>T	NCBI36
NG_011763.1:g.37865G>A , LRG_472:g.37865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.*133G>A MANE Select	ENSP00000285021.8:n.*133G>A
ENST00000285021.11:c.*133G>A	ENSP00000285021.7:n.*133G>A
ENST00000476581.6:c.*2409G>A	ENSP00000424548.1:n.*2409G>A
ENST00000601399.3:n.689+125C>T
ENST00000608606.1:c.598+125C>T
ENST00000626721.1:n.588+125C>T
NM_004628.4:c.*133G>A , LRG_472t1:c.*133G>A	NP_004619.3:n.*133G>A
NR_027299.1:n.2936G>A
NM_001354726.1:c.*133G>A	NP_001341655.1:n.*133G>A
NM_001354727.1:c.*133G>A	NP_001341656.1:n.*133G>A
NM_001354729.1:c.*133G>A	NP_001341658.1:n.*133G>A
NM_001354730.1:c.*133G>A	NP_001341659.1:n.*133G>A
NR_148950.1:n.2899G>A
NR_148951.1:n.2775G>A
XR_001740256.2:n.3263G>A
XR_002959580.1:n.3338G>A
XR_002959581.1:n.4606G>A
NM_001354727.2:c.*133G>A	NP_001341656.1:n.*133G>A
NM_004628.5:c.*133G>A MANE Select	NP_004619.3:n.*133G>A
NR_148950.2:n.2828G>A
NR_148951.2:n.2704G>A
NM_001354726.2:c.*133G>A	NP_001341655.1:n.*133G>A
NM_001354729.2:c.*133G>A	NP_001341658.1:n.*133G>A
NM_001354730.2:c.*133G>A	NP_001341659.1:n.*133G>A