ClinGen Allele Registry
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Canonical Allele Identifier:
CA285257379
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr16:g.82622492C>T
GRCh37
chr16:g.82656097C>T
Linked Data - Sequence & Population
gnomAD v2:
16:82656097 C / T
gnomAD v3:
16:82622492 C / T
gnomAD v4:
chr16-82622492-C-T
Joint Max Group AF
0.00006803 (NFE)
Genomes Max Group AF
0.00006803 (NFE)
Linked Data - NCBI & NCI
dbSNP:
759416934
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.82622492C>T , CM000678.2:g.82622492C>T
GRCh38
NC_000016.9:g.82656097C>T , CM000678.1:g.82656097C>T
GRCh37
NC_000016.8:g.81213598C>T
NCBI36
NG_052819.1:g.699C>T
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