ClinGen Allele Registry
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Canonical Allele Identifier:
CA10843394
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.88186088C>A
GRCh37
chr1:g.88651771C>A
Linked Data - Sequence & Population
gnomAD v2:
1:88651771 C / A
gnomAD v3:
1:88186088 C / A
gnomAD v4:
chr1-88186088-C-A
Joint Max Group AF
0.63228929 (AMR)
Genomes Max Group AF
0.63228929 (AMR)
Linked Data - NCBI & NCI
dbSNP:
10923038
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.88186088C>A , CM000663.2:g.88186088C>A
GRCh38
NC_000001.10:g.88651771C>A , CM000663.1:g.88651771C>A
GRCh37
NC_000001.9:g.88424359C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_947571.1:n.314-9900G>T
Search 100 bp 5'
Search 100 bp 3'