ClinGen Allele Registry
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Canonical Allele Identifier:
CA37541490
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.218342968G>A
GRCh37
chr1:g.218516310G>A
Linked Data - Sequence & Population
gnomAD v2:
1:218516310 G / A
gnomAD v3:
1:218342968 G / A
gnomAD v4:
chr1-218342968-G-A
Joint Max Group AF
0.00001974 (NFE)
Genomes Max Group AF
0.00001974 (NFE)
Linked Data - NCBI & NCI
dbSNP:
10495098
2100232024
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.218342968G>A , CM000663.2:g.218342968G>A
GRCh38
NC_000001.10:g.218516310G>A , CM000663.1:g.218516310G>A
GRCh37
NC_000001.9:g.216582933G>A
NCBI36
NG_027721.1:g.2635G>A
NG_027721.2:g.2635G>A
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