Canonical Allele Identifier: CA2267222

Gene: XPC

Linked Data

• ClinVar Variation Id: 738187
• ClinVar RCV Id: RCV000914044 ; RCV001146335 ; RCV002258039
• dbSNP Id: rs201446851
• ExAC: 3:14190308 C / T
• gnomAD v2: 3-14190308-C-T
• gnomAD v3: 3-14148808-C-T
• gnomAD v4: 3-14148808-C-T
• MyVariant Identifiers: chr3:g.14190308C>T (hg19) ; chr3:g.14148808C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148808C>T , CM000665.2:g.14148808C>T	GRCh38
NC_000003.11:g.14190308C>T , CM000665.1:g.14190308C>T	GRCh37
NC_000003.10:g.14165309C>T	NCBI36
NG_011763.1:g.34865G>A , LRG_472:g.34865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2250+6G>A MANE Select	ENSP00000285021.8:n.2250+6G>A
ENST00000285021.11:c.2250+6G>A	ENSP00000285021.7:n.2250+6G>A
ENST00000427795.2:n.115+6G>A
ENST00000476581.6:c.*1703+6G>A	ENSP00000424548.1:n.*1703+6G>A
NM_004628.4:c.2250+6G>A , LRG_472t1:c.2250+6G>A	NP_004619.3:n.2250+6G>A
NR_027299.1:n.2230+6G>A
XM_011534092.1:c.2250+6G>A	XP_011532394.1:n.2250+6G>A
NM_001354726.1:c.1671+6G>A	NP_001341655.1:n.1671+6G>A
NM_001354727.1:c.2244+6G>A	NP_001341656.1:n.2244+6G>A
NM_001354729.1:c.2232+6G>A	NP_001341658.1:n.2232+6G>A
NM_001354730.1:c.2004+6G>A	NP_001341659.1:n.2004+6G>A
NR_148950.1:n.2193+6G>A
NR_148951.1:n.2069+6G>A
XR_001740256.2:n.2283+6G>A
XR_002959580.1:n.2283+6G>A
XR_002959581.1:n.3900+6G>A
NM_001354727.2:c.2244+6G>A	NP_001341656.1:n.2244+6G>A
NM_004628.5:c.2250+6G>A MANE Select	NP_004619.3:n.2250+6G>A
NR_148950.2:n.2122+6G>A
NR_148951.2:n.1998+6G>A
NM_001354726.2:c.1671+6G>A	NP_001341655.1:n.1671+6G>A
NM_001354729.2:c.2232+6G>A	NP_001341658.1:n.2232+6G>A
NM_001354730.2:c.2004+6G>A	NP_001341659.1:n.2004+6G>A