ClinGen Allele Registry
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Canonical Allele Identifier:
CA12797727
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.125474167A>G
GRCh37
chr8:g.126486409A>G
Linked Data - Sequence & Population
gnomAD v2:
8:126486409 A / G
gnomAD v3:
8:125474167 A / G
gnomAD v4:
chr8-125474167-A-G
Joint Max Group AF
0.54579491 (AFR)
Genomes Max Group AF
0.54579491 (AFR)
Linked Data - NCBI & NCI
dbSNP:
17321515
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125474167A>G , CM000670.2:g.125474167A>G
GRCh38
NC_000008.10:g.126486409A>G , CM000670.1:g.126486409A>G
GRCh37
NC_000008.9:g.126555591A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+853A>G
Search 100 bp 5'
Search 100 bp 3'