ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA12506093
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr7:g.45911631G>A
GRCh37
chr7:g.45951230G>A
Linked Data - Sequence & Population
gnomAD v2:
7:45951230 G / A
gnomAD v3:
7:45911631 G / A
gnomAD v4:
chr7-45911631-G-A
Joint Max Group AF
0.43835006 (AFR)
Genomes Max Group AF
0.43835006 (AFR)
Linked Data - NCBI & NCI
dbSNP:
13223993
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.45911631G>A , CM000669.2:g.45911631G>A
GRCh38
NC_000007.13:g.45951230G>A , CM000669.1:g.45951230G>A
GRCh37
NC_000007.12:g.45917755G>A
NCBI36
NG_011508.1:g.14642C>T
Search 100 bp 5'
Search 100 bp 3'