ClinGen Allele Registry
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Canonical Allele Identifier:
CA117709579
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.40414998G>A
GRCh37
chr5:g.40415100G>A
Linked Data - Sequence & Population
gnomAD v2:
5:40415100 G / A
gnomAD v3:
5:40414998 G / A
gnomAD v4:
chr5-40414998-G-A
Joint Max Group AF
0.01227407 (NFE)
Genomes Max Group AF
0.01227479 (NFE)
Exomes Max Group AF
0.00575813 (SAS)
Linked Data - NCBI & NCI
dbSNP:
138198176
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40414998G>A , CM000667.2:g.40414998G>A
GRCh38
NC_000005.9:g.40415100G>A , CM000667.1:g.40415100G>A
GRCh37
NC_000005.8:g.40450857G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'