Canonical Allele Identifier: CA274753

Gene: XPC

Linked Data

• ClinVar Variation Id: 190209
• ClinVar RCV Id: RCV000170430 ; RCV001205980 ; RCV001174681
• dbSNP Id: rs201940931
• gnomAD v2: 3-14207087-T-G
• gnomAD v3: 3-14165587-T-G
• gnomAD v4: 3-14165587-T-G
• MyVariant Identifiers: chr3:g.14207087T>G (hg19) ; chr3:g.14165587T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14165587T>G , CM000665.2:g.14165587T>G	GRCh38
NC_000003.11:g.14207087T>G , CM000665.1:g.14207087T>G	GRCh37
NC_000003.10:g.14182091T>G	NCBI36
NG_011763.1:g.18086A>C , LRG_472:g.18086A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.622-2A>C MANE Select	ENSP00000285021.8:n.622-2A>C
ENST00000285021.11:c.622-2A>C	ENSP00000285021.7:n.622-2A>C
ENST00000452172.1:n.387-2A>C
ENST00000455144.6:n.233-2A>C
ENST00000476581.6:c.*75-2A>C	ENSP00000424548.1:n.*75-2A>C
ENST00000477324.6:n.100-2A>C
NM_004628.4:c.622-2A>C , LRG_472t1:c.622-2A>C	NP_004619.3:n.622-2A>C
NR_027299.1:n.602-2A>C
XM_011534092.1:c.622-2A>C	XP_011532394.1:n.622-2A>C
XM_011534093.1:c.622-2A>C	XP_011532395.1:n.622-2A>C
NM_001354726.1:c.43-2A>C	NP_001341655.1:n.43-2A>C
NM_001354727.1:c.622-2A>C	NP_001341656.1:n.622-2A>C
NM_001354729.1:c.604-2A>C	NP_001341658.1:n.604-2A>C
NM_001354730.1:c.622-2A>C	NP_001341659.1:n.622-2A>C
NR_148950.1:n.726-2A>C
NR_148951.1:n.602-2A>C
XR_001740256.2:n.655-2A>C
XR_002959580.1:n.655-2A>C
XR_002959581.1:n.655-2A>C
NM_001354727.2:c.622-2A>C	NP_001341656.1:n.622-2A>C
NM_004628.5:c.622-2A>C MANE Select	NP_004619.3:n.622-2A>C
NR_148950.2:n.655-2A>C
NR_148951.2:n.531-2A>C
NM_001354726.2:c.43-2A>C	NP_001341655.1:n.43-2A>C
NM_001354729.2:c.604-2A>C	NP_001341658.1:n.604-2A>C
NM_001354730.2:c.622-2A>C	NP_001341659.1:n.622-2A>C