ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA553104063
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.99353062T>A
GRCh37
chr4:g.100274219T>A
Linked Data - Sequence & Population
gnomAD v2:
4:100274219 T / A
gnomAD v3:
4:99353062 T / A
gnomAD v4:
chr4-99353062-T-A
Joint Max Group AF
0.00041881 (SAS)
Genomes Max Group AF
0.00040793 (SAS)
Exomes Max Group AF
0.0001173 (SAS)
Linked Data - NCBI & NCI
dbSNP:
1431496438
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99353062T>A , CM000666.2:g.99353062T>A
GRCh38
NC_000004.11:g.100274219T>A , CM000666.1:g.100274219T>A
GRCh37
NC_000004.10:g.100493242T>A
NCBI36
NG_011718.1:g.4699A>T
Search 100 bp 5'
Search 100 bp 3'