ClinGen Allele Registry
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Canonical Allele Identifier:
CA314826523
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr20:g.40399796C>T
GRCh37
chr20:g.39028436C>T
Linked Data - Sequence & Population
gnomAD v3:
20:40399796 C / T
gnomAD v4:
chr20-40399796-C-T
Joint Max Group AF
0.00001171 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Linked Data - NCBI & NCI
dbSNP:
8124695
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.40399796C>T , CM000682.2:g.40399796C>T
GRCh38
NC_000020.10:g.39028436C>T , CM000682.1:g.39028436C>T
GRCh37
NC_000020.9:g.38461850C>T
NCBI36
Search 100 bp 5'
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