ClinGen Allele Registry
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Canonical Allele Identifier:
CA14947146
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr22:g.50533323A>C
GRCh37
chr22:g.50971752A>C
Linked Data - Sequence & Population
gnomAD v2:
22:50971752 A / C
gnomAD v3:
22:50533323 A / C
gnomAD v4:
chr22-50533323-A-C
Joint Max Group AF
0.93773649 (EAS)
Genomes Max Group AF
0.93773649 (EAS)
Linked Data - NCBI & NCI
dbSNP:
131794
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.50533323A>C , CM000684.2:g.50533323A>C
GRCh38
NC_000022.10:g.50971752A>C , CM000684.1:g.50971752A>C
GRCh37
NC_000022.9:g.49318618A>C
NCBI36
NG_011860.1:g.1763T>G , LRG_727:g.1763T>G
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