ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA14574270
Gene:
Linked Data - Expert Curation
COSMIC:
COSN17596347 (not active)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr18:g.50872497G>A
GRCh37
chr18:g.48398867G>A
Linked Data - Sequence & Population
gnomAD v2:
18:48398867 G / A
gnomAD v3:
18:50872497 G / A
gnomAD v4:
chr18-50872497-G-A
Joint Max Group AF
0.36768326 (NFE)
Genomes Max Group AF
0.36768326 (NFE)
Linked Data - NCBI & NCI
dbSNP:
585344
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.50872497G>A , CM000680.2:g.50872497G>A
GRCh38
NC_000018.9:g.48398867G>A , CM000680.1:g.48398867G>A
GRCh37
NC_000018.8:g.46652865G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'