ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA11800614
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.99353129C>T
GRCh37
chr4:g.100274286C>T
Linked Data - Sequence & Population
gnomAD v2:
4:100274286 C / T
gnomAD v3:
4:99353129 C / T
gnomAD v4:
chr4-99353129-C-T
Joint Max Group AF
0.40697093 (NFE)
Genomes Max Group AF
0.40850569 (NFE)
Exomes Max Group AF
0.37724247 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1789924
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99353129C>T , CM000666.2:g.99353129C>T
GRCh38
NC_000004.11:g.100274286C>T , CM000666.1:g.100274286C>T
GRCh37
NC_000004.10:g.100493309C>T
NCBI36
NG_011718.1:g.4632G>A
Search 100 bp 5'
Search 100 bp 3'