ClinGen Allele Registry
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Canonical Allele Identifier:
CA39184712
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.228861997G>T
GRCh37
chr1:g.228997744G>T
Linked Data - Sequence & Population
gnomAD v3:
1:228861997 G / T
gnomAD v4:
chr1-228861997-G-T
Joint Max Group AF
0.00050327 (EAS)
Genomes Max Group AF
0.00050327 (EAS)
Linked Data - NCBI & NCI
dbSNP:
373725525
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.228861997G>T , CM000663.2:g.228861997G>T
GRCh38
NC_000001.10:g.228997744G>T , CM000663.1:g.228997744G>T
GRCh37
NC_000001.9:g.227064367G>T
NCBI36
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