ClinGen Allele Registry
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Canonical Allele Identifier:
CA181172504
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.83078996A>C
GRCh37
chr8:g.83991231A>C
Linked Data - Sequence & Population
gnomAD v2:
8:83991231 A / C
gnomAD v3:
8:83078996 A / C
gnomAD v4:
chr8-83078996-A-C
Joint Max Group AF
0.88074796 (NFE)
Genomes Max Group AF
0.88074796 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1375785
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.83078996A>C , CM000670.2:g.83078996A>C
GRCh38
NC_000008.10:g.83991231A>C , CM000670.1:g.83991231A>C
GRCh37
NC_000008.9:g.84153786A>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'