ClinGen Allele Registry
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Canonical Allele Identifier:
CA21833157
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.45329010C>T
GRCh37
chr1:g.45794682C>T
Linked Data - Sequence & Population
gnomAD v2:
1:45794682 C / T
gnomAD v3:
1:45329010 C / T
gnomAD v4:
chr1-45329010-C-T
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Linked Data - NCBI & NCI
dbSNP:
751939912
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.45329010C>T , CM000663.2:g.45329010C>T
GRCh38
NC_000001.10:g.45794682C>T , CM000663.1:g.45794682C>T
GRCh37
NC_000001.9:g.45567269C>T
NCBI36
NG_008189.1:g.16461G>A , LRG_220:g.16461G>A
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