Canonical Allele Identifier: CA2664577151

Gene: XPC

Linked Data

• ClinVar Variation Id: 2832511
• ClinVar RCV Id: RCV003689542
• gnomAD v4: 3-14158000-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158000C>T , CM000665.2:g.14158000C>T	GRCh38
NC_000003.11:g.14199500C>T , CM000665.1:g.14199500C>T	GRCh37
NC_000003.10:g.14174502C>T	NCBI36
NG_011763.1:g.25673G>A , LRG_472:g.25673G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1872+11G>A MANE Select	ENSP00000285021.8:n.1872+11G>A
ENST00000285021.11:c.1872+11G>A	ENSP00000285021.7:n.1872+11G>A
ENST00000476581.6:c.*1325+11G>A	ENSP00000424548.1:n.*1325+11G>A
NM_004628.4:c.1872+11G>A , LRG_472t1:c.1872+11G>A	NP_004619.3:n.1872+11G>A
NR_027299.1:n.1852+11G>A
XM_011534092.1:c.1872+11G>A	XP_011532394.1:n.1872+11G>A
XM_011534093.1:c.1872+11G>A	XP_011532395.1:n.1872+11G>A
NM_001354726.1:c.1293+11G>A	NP_001341655.1:n.1293+11G>A
NM_001354727.1:c.1872+11G>A	NP_001341656.1:n.1872+11G>A
NM_001354729.1:c.1854+11G>A	NP_001341658.1:n.1854+11G>A
NM_001354730.1:c.1626+257G>A	NP_001341659.1:n.1626+257G>A
NR_148950.1:n.1976+11G>A
NR_148951.1:n.1852+11G>A
XR_001740256.2:n.1905+11G>A
XR_002959580.1:n.1905+11G>A
XR_002959581.1:n.1905+11G>A
NM_001354727.2:c.1872+11G>A	NP_001341656.1:n.1872+11G>A
NM_004628.5:c.1872+11G>A MANE Select	NP_004619.3:n.1872+11G>A
NR_148950.2:n.1905+11G>A
NR_148951.2:n.1781+11G>A
NM_001354726.2:c.1293+11G>A	NP_001341655.1:n.1293+11G>A
NM_001354729.2:c.1854+11G>A	NP_001341658.1:n.1854+11G>A
NM_001354730.2:c.1626+257G>A	NP_001341659.1:n.1626+257G>A