ClinGen Allele Registry
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Canonical Allele Identifier:
CA122000
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr16:g.68737131C>A
GRCh37
chr16:g.68771034C>A
Linked Data - Sequence & Population
gnomAD v2:
16:68771034 C / A
gnomAD v3:
16:68737131 C / A
gnomAD v4:
chr16-68737131-C-A
Joint Max Group AF
0.28361623 (MID)
Genomes Max Group AF
0.28006107 (AMR)
Exomes Max Group AF
0.29238937 (MID)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013034
RCV001260567
RCV001610289
RCV003328158
ClinVar Variation:
12247
dbSNP:
16260
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.68737131C>A , CM000678.2:g.68737131C>A
GRCh38
NC_000016.9:g.68771034C>A , CM000678.1:g.68771034C>A
GRCh37
NC_000016.8:g.67328535C>A
NCBI36
NG_008021.1:g.4840C>A , LRG_301:g.4840C>A
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