ClinGen Allele Registry
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Canonical Allele Identifier:
CA15534766
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr7:g.20007952A>C
GRCh37
chr7:g.20047575A>C
Linked Data - Sequence & Population
gnomAD v2:
7:20047575 A / C
gnomAD v3:
7:20007952 A / C
gnomAD v4:
chr7-20007952-A-C
Joint Max Group AF
0.15733864 (AFR)
Genomes Max Group AF
0.15733864 (AFR)
Linked Data - NCBI & NCI
dbSNP:
38152
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.20007952A>C , CM000669.2:g.20007952A>C
GRCh38
NC_000007.13:g.20047575A>C , CM000669.1:g.20047575A>C
GRCh37
NC_000007.12:g.20014100A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_110114.1:n.210+20967T>G
Search 100 bp 5'
Search 100 bp 3'