ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA13620237
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr12:g.46085273T>C
GRCh37
chr12:g.46479056T>C
Linked Data - Sequence & Population
gnomAD v2:
12:46479056 T / C
gnomAD v3:
12:46085273 T / C
gnomAD v4:
chr12-46085273-T-C
Joint Max Group AF
0.48624852 (AFR)
Genomes Max Group AF
0.48624852 (AFR)
Linked Data - NCBI & NCI
dbSNP:
10880908
2136715145
2136715146
2136715150
2136715153
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.46085273T>C , CM000674.2:g.46085273T>C
GRCh38
NC_000012.11:g.46479056T>C , CM000674.1:g.46479056T>C
GRCh37
NC_000012.10:g.44765323T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'