Canonical Allele Identifier: CA2267176

Gene: XPC

Linked Data

• ClinVar Variation Id: 899704
• ClinVar RCV Id: RCV001144437 ; RCV003442213 ; RCV003372997
• dbSNP Id: rs753463306
• ExAC: 3:14190131 C / T
• gnomAD v2: 3-14190131-C-T
• gnomAD v3: 3-14148631-C-T
• gnomAD v4: 3-14148631-C-T
• MyVariant Identifiers: chr3:g.14190131C>T (hg19) ; chr3:g.14148631C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148631C>T , CM000665.2:g.14148631C>T	GRCh38
NC_000003.11:g.14190131C>T , CM000665.1:g.14190131C>T	GRCh37
NC_000003.10:g.14165132C>T	NCBI36
NG_011763.1:g.35042G>A , LRG_472:g.35042G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2351G>A MANE Select	ENSP00000285021.8:p.Arg784His
ENST00000285021.11:c.2351G>A	ENSP00000285021.7:p.Arg784His
ENST00000427795.2:n.216G>A
ENST00000476581.6:c.*1804G>A	ENSP00000424548.1:n.*1804G>A
NM_004628.4:c.2351G>A , LRG_472t1:c.2351G>A	NP_004619.3:p.Arg784His
NR_027299.1:n.2331G>A
XM_011534092.1:c.2351G>A	XP_011532394.1:p.Arg784His
NM_001354726.1:c.1772G>A	NP_001341655.1:p.Arg591His
NM_001354727.1:c.2345G>A	NP_001341656.1:p.Arg782His
NM_001354729.1:c.2333G>A	NP_001341658.1:p.Arg778His
NM_001354730.1:c.2105G>A	NP_001341659.1:p.Arg702His
NR_148950.1:n.2294G>A
NR_148951.1:n.2170G>A
XR_001740256.2:n.2384G>A
XR_002959580.1:n.2384G>A
XR_002959581.1:n.4001G>A
NM_001354727.2:c.2345G>A	NP_001341656.1:p.Arg782His
NM_004628.5:c.2351G>A MANE Select	NP_004619.3:p.Arg784His
NR_148950.2:n.2223G>A
NR_148951.2:n.2099G>A
NM_001354726.2:c.1772G>A	NP_001341655.1:p.Arg591His
NM_001354729.2:c.2333G>A	NP_001341658.1:p.Arg778His
NM_001354730.2:c.2105G>A	NP_001341659.1:p.Arg702His