ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA14246334
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr16:g.50685192T>C
GRCh37
chr16:g.50719103T>C
Linked Data - Sequence & Population
gnomAD v2:
16:50719103 T / C
gnomAD v3:
16:50685192 T / C
gnomAD v4:
chr16-50685192-T-C
Joint Max Group AF
0.73505481 (NFE)
Genomes Max Group AF
0.73505481 (NFE)
Linked Data - NCBI & NCI
dbSNP:
9302752
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.50685192T>C , CM000678.2:g.50685192T>C
GRCh38
NC_000016.9:g.50719103T>C , CM000678.1:g.50719103T>C
GRCh37
NC_000016.8:g.49276604T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'