ClinGen Allele Registry
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Canonical Allele Identifier:
CA11393963
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.67310A>G
GRCh37
chr3:g.108993A>G
Linked Data - Sequence & Population
gnomAD v2:
3:108993 A / G
gnomAD v3:
3:67310 A / G
gnomAD v4:
chr3-67310-A-G
Joint Max Group AF
0.43709938 (EAS)
Genomes Max Group AF
0.43709938 (EAS)
Linked Data - NCBI & NCI
dbSNP:
9841287
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.67310A>G , CM000665.2:g.67310A>G
GRCh38
NC_000003.11:g.108993A>G , CM000665.1:g.108993A>G
GRCh37
NC_000003.10:g.83993A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940532.1:n.81-7106T>C
XR_940533.1:n.396-15A>G
Search 100 bp 5'
Search 100 bp 3'