ClinGen Allele Registry
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Canonical Allele Identifier:
CA11495302
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.18725912C>T
GRCh37
chr3:g.18767404C>T
Linked Data - Sequence & Population
gnomAD v2:
3:18767404 C / T
gnomAD v3:
3:18725912 C / T
gnomAD v4:
chr3-18725912-C-T
Joint Max Group AF
0.14394688 (NFE)
Genomes Max Group AF
0.14394688 (NFE)
Linked Data - NCBI & NCI
dbSNP:
4256159
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.18725912C>T , CM000665.2:g.18725912C>T
GRCh38
NC_000003.11:g.18767404C>T , CM000665.1:g.18767404C>T
GRCh37
NC_000003.10:g.18742408C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001740423.1:n.60-20042C>T
Search 100 bp 5'
Search 100 bp 3'