ClinGen Allele Registry
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Canonical Allele Identifier:
CA290451589
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr17:g.39867188T>A
GRCh37
chr17:g.38023441T>A
Linked Data - Sequence & Population
gnomAD v2:
17:38023441 T / A
gnomAD v3:
17:39867188 T / A
gnomAD v4:
chr17-39867188-T-A
Joint Max Group AF
0.00001973 (NFE)
Genomes Max Group AF
0.00001973 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1453560
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.39867188T>A , CM000679.2:g.39867188T>A
GRCh38
NC_000017.10:g.38023441T>A , CM000679.1:g.38023441T>A
GRCh37
NC_000017.9:g.35276967T>A
NCBI36
NG_029104.2:g.2001A>T
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