ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA13363107
Gene:
Linked Data - Expert Curation
COSMIC:
COSN17007198 (not active)
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr10:g.44258419T>C
GRCh37
chr10:g.44753867T>C
Linked Data - Sequence & Population
gnomAD v2:
10:44753867 T / C
gnomAD v3:
10:44258419 T / C
gnomAD v4:
chr10-44258419-T-C
Joint Max Group AF
0.41585802 (AFR)
Genomes Max Group AF
0.41585802 (AFR)
Linked Data - NCBI & NCI
dbSNP:
501120
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.44258419T>C , CM000672.2:g.44258419T>C
GRCh38
NC_000010.10:g.44753867T>C , CM000672.1:g.44753867T>C
GRCh37
NC_000010.9:g.44073873T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'