ClinGen Allele Registry
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Canonical Allele Identifier:
CA14934647
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr22:g.20241019A>G
GRCh37
chr22:g.20228542A>G
Linked Data - Sequence & Population
gnomAD v2:
22:20228542 A / G
gnomAD v3:
22:20241019 A / G
gnomAD v4:
chr22-20241019-A-G
Joint Max Group AF
0.62516511 (NFE)
Genomes Max Group AF
0.62516511 (NFE)
Linked Data - NCBI & NCI
dbSNP:
701428
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.20241019A>G , CM000684.2:g.20241019A>G
GRCh38
NC_000022.10:g.20228542A>G , CM000684.1:g.20228542A>G
GRCh37
NC_000022.9:g.18608542A>G
NCBI36
NG_012176.1:g.32275T>C
NG_012176.2:g.32275T>C
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