ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA11990495
Gene:
Linked Data - Expert Curation
COSMIC:
COSN14869445 (not active)
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr5:g.175355116T>C
GRCh37
chr5:g.174782119T>C
Linked Data - Sequence & Population
gnomAD v2:
5:174782119 T / C
gnomAD v3:
5:175355116 T / C
gnomAD v4:
chr5-175355116-T-C
Joint Max Group AF
0.81677181 (AFR)
Genomes Max Group AF
0.81677181 (AFR)
Linked Data - NCBI & NCI
dbSNP:
251925
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.175355116T>C , CM000667.2:g.175355116T>C
GRCh38
NC_000005.9:g.174782119T>C , CM000667.1:g.174782119T>C
GRCh37
NC_000005.8:g.174714725T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'