ClinGen Allele Registry
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Canonical Allele Identifier:
CA15344302
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.80248758G>T
GRCh37
chr4:g.81169912G>T
Linked Data - Sequence & Population
gnomAD v2:
4:81169912 G / T
gnomAD v3:
4:80248758 G / T
gnomAD v4:
chr4-80248758-G-T
Joint Max Group AF
0.40196205 (EAS)
Genomes Max Group AF
0.40196205 (EAS)
Linked Data - NCBI & NCI
dbSNP:
11099098
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.80248758G>T , CM000666.2:g.80248758G>T
GRCh38
NC_000004.11:g.81169912G>T , CM000666.1:g.81169912G>T
GRCh37
NC_000004.10:g.81388936G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_938930.1:n.187-6607G>T
Search 100 bp 5'
Search 100 bp 3'