ClinGen Allele Registry
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Canonical Allele Identifier:
CA14880262
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr21:g.39825930T>C
GRCh37
chr21:g.41197857T>C
Linked Data - Sequence & Population
gnomAD v2:
21:41197857 T / C
gnomAD v3:
21:39825930 T / C
gnomAD v4:
chr21-39825930-T-C
Joint Max Group AF
0.13948187 (AFR)
Genomes Max Group AF
0.13948187 (AFR)
Linked Data - NCBI & NCI
dbSNP:
2837237
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.39825930T>C , CM000683.2:g.39825930T>C
GRCh38
NC_000021.8:g.41197857T>C , CM000683.1:g.41197857T>C
GRCh37
NC_000021.7:g.40119727T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'