ClinGen Allele Registry
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Canonical Allele Identifier:
CA21159300
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.36696751A>G
GRCh37
chr1:g.37162352A>G
Linked Data - Sequence & Population
gnomAD v2:
1:37162352 A / G
gnomAD v3:
1:36696751 A / G
gnomAD v4:
chr1-36696751-A-G
Joint Max Group AF
0.80647739 (AFR)
Genomes Max Group AF
0.80647739 (AFR)
Linked Data - NCBI & NCI
dbSNP:
589249
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.36696751A>G , CM000663.2:g.36696751A>G
GRCh38
NC_000001.10:g.37162352A>G , CM000663.1:g.37162352A>G
GRCh37
NC_000001.9:g.36934939A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001737977.1:n.106+5465T>C
Search 100 bp 5'
Search 100 bp 3'