ClinGen Allele Registry
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Canonical Allele Identifier:
CA14931396
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr22:g.48256185T>G
GRCh37
chr22:g.48651997T>G
Linked Data - Sequence & Population
gnomAD v2:
22:48651997 T / G
gnomAD v3:
22:48256185 T / G
gnomAD v4:
chr22-48256185-T-G
Joint Max Group AF
0.7675492 (AFR)
Genomes Max Group AF
0.7675492 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1004689
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.48256185T>G , CM000684.2:g.48256185T>G
GRCh38
NC_000022.10:g.48651997T>G , CM000684.1:g.48651997T>G
GRCh37
NC_000022.9:g.47030661T>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'