Canonical Allele Identifier: CA351538096

Gene: XPC

Linked Data

• dbSNP Id: rs1307847009
• gnomAD v2: 3-14190353-C-A
• gnomAD v4: 3-14148853-C-A
• MyVariant Identifiers: chr3:g.14190353C>A (hg19) ; chr3:g.14148853C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148853C>A , CM000665.2:g.14148853C>A	GRCh38
NC_000003.11:g.14190353C>A , CM000665.1:g.14190353C>A	GRCh37
NC_000003.10:g.14165354C>A	NCBI36
NG_011763.1:g.34820G>T , LRG_472:g.34820G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2211G>T MANE Select	ENSP00000285021.8:p.Gln737His
ENST00000285021.11:c.2211G>T	ENSP00000285021.7:p.Gln737His
ENST00000427795.2:n.76G>T
ENST00000476581.6:c.*1664G>T	ENSP00000424548.1:n.*1664G>T
NM_004628.4:c.2211G>T , LRG_472t1:c.2211G>T	NP_004619.3:p.Gln737His
NR_027299.1:n.2191G>T
XM_011534092.1:c.2211G>T	XP_011532394.1:p.Gln737His
NM_001354726.1:c.1632G>T	NP_001341655.1:p.Gln544His
NM_001354727.1:c.2205G>T	NP_001341656.1:p.Gln735His
NM_001354729.1:c.2193G>T	NP_001341658.1:p.Gln731His
NM_001354730.1:c.1965G>T	NP_001341659.1:p.Gln655His
NR_148950.1:n.2154G>T
NR_148951.1:n.2030G>T
XR_001740256.2:n.2244G>T
XR_002959580.1:n.2244G>T
XR_002959581.1:n.3861G>T
NM_001354727.2:c.2205G>T	NP_001341656.1:p.Gln735His
NM_004628.5:c.2211G>T MANE Select	NP_004619.3:p.Gln737His
NR_148950.2:n.2083G>T
NR_148951.2:n.1959G>T
NM_001354726.2:c.1632G>T	NP_001341655.1:p.Gln544His
NM_001354729.2:c.2193G>T	NP_001341658.1:p.Gln731His
NM_001354730.2:c.1965G>T	NP_001341659.1:p.Gln655His