ClinGen Allele Registry
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Canonical Allele Identifier:
CA166235337
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr7:g.128954129T>C
GRCh37
chr7:g.128594183T>C
Linked Data - Sequence & Population
gnomAD v2:
7:128594183 T / C
gnomAD v3:
7:128954129 T / C
gnomAD v4:
chr7-128954129-T-C
Joint Max Group AF
0.14386352 (SAS)
Genomes Max Group AF
0.14386352 (SAS)
Exomes Max Group AF
0.08884008 (NFE)
Linked Data - NCBI & NCI
dbSNP:
10488631
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.128954129T>C , CM000669.2:g.128954129T>C
GRCh38
NC_000007.13:g.128594183T>C , CM000669.1:g.128594183T>C
GRCh37
NC_000007.12:g.128381419T>C
NCBI36
NG_023428.1:g.106045A>G
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