ClinGen Allele Registry
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Canonical Allele Identifier:
CA11457609
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.152045912C>T
GRCh37
chr3:g.151763701C>T
Linked Data - Sequence & Population
gnomAD v2:
3:151763701 C / T
gnomAD v3:
3:152045912 C / T
gnomAD v4:
chr3-152045912-C-T
Joint Max Group AF
0.58731468 (SAS)
Genomes Max Group AF
0.58731468 (SAS)
Linked Data - NCBI & NCI
dbSNP:
1351267
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.152045912C>T , CM000665.2:g.152045912C>T
GRCh38
NC_000003.11:g.151763701C>T , CM000665.1:g.151763701C>T
GRCh37
NC_000003.10:g.153246391C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_924587.1:n.1096+13G>A
Search 100 bp 5'
Search 100 bp 3'