ClinGen Allele Registry
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Canonical Allele Identifier:
CA21833204
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.45329102G>A
GRCh37
chr1:g.45794774G>A
Linked Data - Sequence & Population
gnomAD v2:
1:45794774 G / A
gnomAD v3:
1:45329102 G / A
gnomAD v4:
chr1-45329102-G-A
Joint Max Group AF
0.00040007 (SAS)
Genomes Max Group AF
0.00002263 (AMR)
Exomes Max Group AF
0.00042166 (SAS)
Linked Data - NCBI & NCI
dbSNP:
777910511
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.45329102G>A , CM000663.2:g.45329102G>A
GRCh38
NC_000001.10:g.45794774G>A , CM000663.1:g.45794774G>A
GRCh37
NC_000001.9:g.45567361G>A
NCBI36
NG_008189.1:g.16369C>T , LRG_220:g.16369C>T
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