ClinGen Allele Registry
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Canonical Allele Identifier:
CA847111672
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.126999630C>A
GRCh37
chr8:g.128011875C>A
Linked Data - Sequence & Population
gnomAD v3:
8:126999630 C / A
gnomAD v4:
chr8-126999630-C-A
Joint Max Group AF
0.00000801 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
Linked Data - NCBI & NCI
dbSNP:
147172363
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126999630C>A , CM000670.2:g.126999630C>A
GRCh38
NC_000008.10:g.128011875C>A , CM000670.1:g.128011875C>A
GRCh37
NC_000008.9:g.128081057C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746076.2:n.1301-6925C>A
Search 100 bp 5'
Search 100 bp 3'