Canonical Allele Identifier: CA2267364

Gene: XPC

Linked Data

• ClinVar Variation Id: 903380
• ClinVar RCV Id: RCV001150641 ; RCV001354136 ; RCV002258145
• dbSNP Id: rs147900621
• ExAC: 3:14199602 C / T
• gnomAD v2: 3-14199602-C-T
• gnomAD v3: 3-14158102-C-T
• gnomAD v4: 3-14158102-C-T
• MyVariant Identifiers: chr3:g.14199602C>T (hg19) ; chr3:g.14158102C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158102C>T , CM000665.2:g.14158102C>T	GRCh38
NC_000003.11:g.14199602C>T , CM000665.1:g.14199602C>T	GRCh37
NC_000003.10:g.14174604C>T	NCBI36
NG_011763.1:g.25571G>A , LRG_472:g.25571G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1781G>A MANE Select	ENSP00000285021.8:p.Arg594His
ENST00000285021.11:c.1781G>A	ENSP00000285021.7:p.Arg594His
ENST00000476581.6:c.*1234G>A	ENSP00000424548.1:n.*1234G>A
NM_004628.4:c.1781G>A , LRG_472t1:c.1781G>A	NP_004619.3:p.Arg594His
NR_027299.1:n.1761G>A
XM_011534092.1:c.1781G>A	XP_011532394.1:p.Arg594His
XM_011534093.1:c.1781G>A	XP_011532395.1:p.Arg594His
NM_001354726.1:c.1202G>A	NP_001341655.1:p.Arg401His
NM_001354727.1:c.1781G>A	NP_001341656.1:p.Arg594His
NM_001354729.1:c.1763G>A	NP_001341658.1:p.Arg588His
NM_001354730.1:c.1626+155G>A	NP_001341659.1:n.1626+155G>A
NR_148950.1:n.1885G>A
NR_148951.1:n.1761G>A
XR_001740256.2:n.1814G>A
XR_002959580.1:n.1814G>A
XR_002959581.1:n.1814G>A
NM_001354727.2:c.1781G>A	NP_001341656.1:p.Arg594His
NM_004628.5:c.1781G>A MANE Select	NP_004619.3:p.Arg594His
NR_148950.2:n.1814G>A
NR_148951.2:n.1690G>A
NM_001354726.2:c.1202G>A	NP_001341655.1:p.Arg401His
NM_001354729.2:c.1763G>A	NP_001341658.1:p.Arg588His
NM_001354730.2:c.1626+155G>A	NP_001341659.1:n.1626+155G>A