Canonical Allele Identifier: CA10617516

Gene: XPC

Linked Data

• ClinVar Variation Id: 343565
• ClinVar RCV Id: RCV000334867
• dbSNP Id: rs886058048
• gnomAD v2: 3-14190403-C-T
• gnomAD v4: 3-14148903-C-T
• MyVariant Identifiers: chr3:g.14190403C>T (hg19) ; chr3:g.14148903C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148903C>T , CM000665.2:g.14148903C>T	GRCh38
NC_000003.11:g.14190403C>T , CM000665.1:g.14190403C>T	GRCh37
NC_000003.10:g.14165404C>T	NCBI36
NG_011763.1:g.34770G>A , LRG_472:g.34770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2161G>A MANE Select	ENSP00000285021.8:p.Glu721Lys
ENST00000285021.11:c.2161G>A	ENSP00000285021.7:p.Glu721Lys
ENST00000427795.2:n.26G>A
ENST00000476581.6:c.*1614G>A	ENSP00000424548.1:n.*1614G>A
NM_004628.4:c.2161G>A , LRG_472t1:c.2161G>A	NP_004619.3:p.Glu721Lys
NR_027299.1:n.2141G>A
XM_011534092.1:c.2161G>A	XP_011532394.1:p.Glu721Lys
NM_001354726.1:c.1582G>A	NP_001341655.1:p.Glu528Lys
NM_001354727.1:c.2155G>A	NP_001341656.1:p.Glu719Lys
NM_001354729.1:c.2143G>A	NP_001341658.1:p.Glu715Lys
NM_001354730.1:c.1915G>A	NP_001341659.1:p.Glu639Lys
NR_148950.1:n.2104G>A
NR_148951.1:n.1980G>A
XR_001740256.2:n.2194G>A
XR_002959580.1:n.2194G>A
XR_002959581.1:n.3811G>A
NM_001354727.2:c.2155G>A	NP_001341656.1:p.Glu719Lys
NM_004628.5:c.2161G>A MANE Select	NP_004619.3:p.Glu721Lys
NR_148950.2:n.2033G>A
NR_148951.2:n.1909G>A
NM_001354726.2:c.1582G>A	NP_001341655.1:p.Glu528Lys
NM_001354729.2:c.2143G>A	NP_001341658.1:p.Glu715Lys
NM_001354730.2:c.1915G>A	NP_001341659.1:p.Glu639Lys