ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA260794082
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr14:g.50704161T>C
GRCh37
chr14:g.51170879T>C
Linked Data - Sequence & Population
gnomAD v2:
14:51170879 T / C
gnomAD v3:
14:50704161 T / C
gnomAD v4:
chr14-50704161-T-C
Joint Max Group AF
0.1798164 (AFR)
Genomes Max Group AF
0.1798164 (AFR)
Linked Data - NCBI & NCI
dbSNP:
8020441
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.50704161T>C , CM000676.2:g.50704161T>C
GRCh38
NC_000014.8:g.51170879T>C , CM000676.1:g.51170879T>C
GRCh37
NC_000014.7:g.50240629T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'