ClinGen Allele Registry
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Canonical Allele Identifier:
CA11564222
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr3:g.30349375A>G
GRCh37
chr3:g.30390867A>G
Linked Data - Sequence & Population
gnomAD v2:
3:30390867 A / G
gnomAD v3:
3:30349375 A / G
gnomAD v4:
chr3-30349375-A-G
Joint Max Group AF
0.63657075 (SAS)
Genomes Max Group AF
0.63657075 (SAS)
Linked Data - NCBI & NCI
dbSNP:
9838682
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.30349375A>G , CM000665.2:g.30349375A>G
GRCh38
NC_000003.11:g.30390867A>G , CM000665.1:g.30390867A>G
GRCh37
NC_000003.10:g.30365871A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_427323.3:n.44A>G
Search 100 bp 5'
Search 100 bp 3'