ClinGen Allele Registry
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Canonical Allele Identifier:
CA11472371
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr3:g.45818159G>A
GRCh37
chr3:g.45859651G>A
Linked Data - Sequence & Population
gnomAD v2:
3:45859651 G / A
gnomAD v3:
3:45818159 G / A
gnomAD v4:
chr3-45818159-G-A
Joint Max Group AF
0.25832334 (SAS)
Genomes Max Group AF
0.25832334 (SAS)
Linked Data - NCBI & NCI
dbSNP:
17713054
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.45818159G>A , CM000665.2:g.45818159G>A
GRCh38
NC_000003.11:g.45859651G>A , CM000665.1:g.45859651G>A
GRCh37
NC_000003.10:g.45834655G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001740681.1:n.781G>A
Search 100 bp 5'
Search 100 bp 3'