ClinGen Allele Registry
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Canonical Allele Identifier:
CA529119875
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.224351238C>G
GRCh37
chr1:g.224538940C>G
Linked Data - Sequence & Population
gnomAD v2:
1:224538940 C / G
gnomAD v3:
1:224351238 C / G
gnomAD v4:
chr1-224351238-C-G
Joint Max Group AF
0.00001181 (NFE)
Genomes Max Group AF
0.00001181 (NFE)
Linked Data - NCBI & NCI
dbSNP:
11579964
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.224351238C>G , CM000663.2:g.224351238C>G
GRCh38
NC_000001.10:g.224538940C>G , CM000663.1:g.224538940C>G
GRCh37
NC_000001.9:g.222605563C>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'