ClinGen Allele Registry
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Canonical Allele Identifier:
CA291590487
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr17:g.50634726C>A
GRCh37
chr17:g.48712087C>A
Linked Data - Sequence & Population
gnomAD v3:
17:50634726 C / A
gnomAD v4:
chr17-50634726-C-A
Joint Max Group AF
0.00003975 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00004542 (NFE)
Linked Data - NCBI & NCI
dbSNP:
4793665
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50634726C>A , CM000679.2:g.50634726C>A
GRCh38
NC_000017.10:g.48712087C>A , CM000679.1:g.48712087C>A
GRCh37
NC_000017.9:g.46067086C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'