ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA29495369
Gene:
Linked Data - Expert Curation
COSMIC:
COSN6503906 (not active)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.115191470T>C
GRCh37
chr1:g.115734091T>C
Linked Data - Sequence & Population
gnomAD v2:
1:115734091 T / C
gnomAD v3:
1:115191470 T / C
gnomAD v4:
chr1-115191470-T-C
Joint Max Group AF
0.43483649 (SAS)
Genomes Max Group AF
0.43483649 (SAS)
Linked Data - NCBI & NCI
dbSNP:
195204
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.115191470T>C , CM000663.2:g.115191470T>C
GRCh38
NC_000001.10:g.115734091T>C , CM000663.1:g.115734091T>C
GRCh37
NC_000001.9:g.115535614T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'