ClinGen Allele Registry
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Canonical Allele Identifier:
CA14945553
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr22:g.48345986A>G
GRCh37
chr22:g.48741798A>G
Linked Data - Sequence & Population
gnomAD v2:
22:48741798 A / G
gnomAD v3:
22:48345986 A / G
gnomAD v4:
chr22-48345986-A-G
Joint Max Group AF
0.38851918 (SAS)
Genomes Max Group AF
0.38851918 (SAS)
Linked Data - NCBI & NCI
dbSNP:
4407
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.48345986A>G , CM000684.2:g.48345986A>G
GRCh38
NC_000022.10:g.48741798A>G , CM000684.1:g.48741798A>G
GRCh37
NC_000022.9:g.47120462A>G
NCBI36
Search 100 bp 5'
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