ClinGen Allele Registry
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Canonical Allele Identifier:
CA283320557
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr16:g.68835607C>T
GRCh37
chr16:g.68869510C>T
Linked Data - Sequence & Population
gnomAD v3:
16:68835607 C / T
gnomAD v4:
chr16-68835607-C-T
Joint Max Group AF
0.00002196 (AMR)
Genomes Max Group AF
0.00002263 (AMR)
Linked Data - NCBI & NCI
dbSNP:
17690554
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.68835607C>T , CM000678.2:g.68835607C>T
GRCh38
NC_000016.9:g.68869510C>T , CM000678.1:g.68869510C>T
GRCh37
NC_000016.8:g.67427011C>T
NCBI36
NG_008021.1:g.103316C>T , LRG_301:g.103316C>T
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