ClinGen Allele Registry
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Canonical Allele Identifier:
CA10670849
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.46413890T>G
GRCh37
chr1:g.46879562T>G
Linked Data - Sequence & Population
gnomAD v2:
1:46879562 T / G
gnomAD v3:
1:46413890 T / G
gnomAD v4:
chr1-46413890-T-G
Joint Max Group AF
0.72942474 (NFE)
Genomes Max Group AF
0.72849354 (NFE)
Exomes Max Group AF
0.72824612 (NFE)
Linked Data - NCBI & NCI
dbSNP:
2295632
2100214344
2100214353
2100214357
2100214380
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.46413890T>G , CM000663.2:g.46413890T>G
GRCh38
NC_000001.10:g.46879562T>G , CM000663.1:g.46879562T>G
GRCh37
NC_000001.9:g.46652149T>G
NCBI36
NG_012195.1:g.24624T>G
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