ClinGen Allele Registry
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Canonical Allele Identifier:
CA21833202
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.45329101C>T
GRCh37
chr1:g.45794773C>T
Linked Data - Sequence & Population
gnomAD v2:
1:45794773 C / T
gnomAD v3:
1:45329101 C / T
gnomAD v4:
chr1-45329101-C-T
Joint Max Group AF
0.0000351 (AFR)
Genomes Max Group AF
0.00003254 (AFR)
Exomes Max Group AF
0.00000107 (NFE)
Linked Data - NCBI & NCI
dbSNP:
566064802
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.45329101C>T , CM000663.2:g.45329101C>T
GRCh38
NC_000001.10:g.45794773C>T , CM000663.1:g.45794773C>T
GRCh37
NC_000001.9:g.45567360C>T
NCBI36
NG_008189.1:g.16370G>A , LRG_220:g.16370G>A
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