ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA12694582
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr7:g.11251773G>A
GRCh37
chr7:g.11291400G>A
Linked Data - Sequence & Population
gnomAD v2:
7:11291400 G / A
gnomAD v3:
7:11251773 G / A
gnomAD v4:
chr7-11251773-G-A
Joint Max Group AF
0.64170737 (AFR)
Genomes Max Group AF
0.64170737 (AFR)
Linked Data - NCBI & NCI
dbSNP:
4720952
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.11251773G>A , CM000669.2:g.11251773G>A
GRCh38
NC_000007.13:g.11291400G>A , CM000669.1:g.11291400G>A
GRCh37
NC_000007.12:g.11257925G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001744902.2:n.3392G>A
Search 100 bp 5'
Search 100 bp 3'