ClinGen Allele Registry
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Canonical Allele Identifier:
CA14767448
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr20:g.3072609C>A
GRCh37
chr20:g.3053255C>A
Linked Data - Sequence & Population
gnomAD v2:
20:3053255 C / A
gnomAD v3:
20:3072609 C / A
gnomAD v4:
chr20-3072609-C-A
Joint Max Group AF
0.43539774 (AMR)
Genomes Max Group AF
0.37997503 (AMR)
Exomes Max Group AF
0.46514923 (AMR)
Linked Data - NCBI & NCI
dbSNP:
2740210
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.3072609C>A , CM000682.2:g.3072609C>A
GRCh38
NC_000020.10:g.3053255C>A , CM000682.1:g.3053255C>A
GRCh37
NC_000020.9:g.3001255C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'