Canonical Allele Identifier: CA2266996
Gene: XPC HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.14145845G>C
GRCh37 chr3:g.14187345G>C
gnomAD v2:
3:14187345 G / C
gnomAD v3:
3:14145845 G / C
gnomAD v4:
chr3-14145845-G-C
Joint Max Group AF 0.37423118 (EAS)
Genomes Max Group AF 0.38309848 (EAS)
Exomes Max Group AF 0.37146672 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14145845G>C , CM000665.2:g.14145845G>C GRCh38
NC_000003.11:g.14187345G>C , CM000665.1:g.14187345G>C GRCh37
NC_000003.10:g.14162346G>C NCBI36
NG_011763.1:g.37828C>G , LRG_472:g.37828C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.*96C>G MANE Select ENSP00000285021.8:n.*96C>G
ENST00000285021.11:c.*96C>G ENSP00000285021.7:n.*96C>G
ENST00000476581.6:c.*2372C>G ENSP00000424548.1:n.*2372C>G
ENST00000601399.3:n.689+162G>C
ENST00000608606.1:c.598+162G>C
ENST00000626721.1:n.588+162G>C
NM_004628.4:c.*96C>G , LRG_472t1:c.*96C>G NP_004619.3:n.*96C>G
NR_027299.1:n.2899C>G
NM_001354726.1:c.*96C>G NP_001341655.1:n.*96C>G
NM_001354727.1:c.*96C>G NP_001341656.1:n.*96C>G
NM_001354729.1:c.*96C>G NP_001341658.1:n.*96C>G
NM_001354730.1:c.*96C>G NP_001341659.1:n.*96C>G
NR_148950.1:n.2862C>G
NR_148951.1:n.2738C>G
XR_001740256.2:n.3226C>G
XR_002959580.1:n.3301C>G
XR_002959581.1:n.4569C>G
NM_001354727.2:c.*96C>G NP_001341656.1:n.*96C>G
NM_004628.5:c.*96C>G MANE Select NP_004619.3:n.*96C>G
NR_148950.2:n.2791C>G
NR_148951.2:n.2667C>G
NM_001354726.2:c.*96C>G NP_001341655.1:n.*96C>G
NM_001354729.2:c.*96C>G NP_001341658.1:n.*96C>G
NM_001354730.2:c.*96C>G NP_001341659.1:n.*96C>G
Search 100 bp 5'
Search 100 bp 3'