ClinGen Allele Registry
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Canonical Allele Identifier:
CA12931154
Gene:
Linked Data - Expert Curation
COSMIC:
COSN17132666 (not active)
COSN17137022 (not active)
COSN17147366 (not active)
COSN17148273 (not active)
COSN17150086 (not active)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.116618444A>C
GRCh37
chr8:g.117630683A>C
Linked Data - Sequence & Population
gnomAD v2:
8:117630683 A / C
gnomAD v3:
8:116618444 A / C
gnomAD v4:
chr8-116618444-A-C
Joint Max Group AF
0.12953016 (MID)
Genomes Max Group AF
0.12406928 (AFR)
Linked Data - NCBI & NCI
dbSNP:
16892766
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.116618444A>C , CM000670.2:g.116618444A>C
GRCh38
NC_000008.10:g.117630683A>C , CM000670.1:g.117630683A>C
GRCh37
NC_000008.9:g.117699864A>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'