ClinGen Allele Registry
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Canonical Allele Identifier:
CA14931261
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr22:g.48057774A>C
GRCh37
chr22:g.48453591A>C
Linked Data - Sequence & Population
gnomAD v2:
22:48453591 A / C
gnomAD v3:
22:48057774 A / C
gnomAD v4:
chr22-48057774-A-C
Joint Max Group AF
0.57201824 (AFR)
Genomes Max Group AF
0.57200908 (AFR)
Exomes Max Group AF
0.45759233 (NFE)
Linked Data - NCBI & NCI
dbSNP:
117294
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.48057774A>C , CM000684.2:g.48057774A>C
GRCh38
NC_000022.10:g.48453591A>C , CM000684.1:g.48453591A>C
GRCh37
NC_000022.9:g.46832255A>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'