ClinGen Allele Registry
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Canonical Allele Identifier:
CA185688701
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.126999710A>G
GRCh37
chr8:g.128011955A>G
Linked Data - Sequence & Population
gnomAD v3:
8:126999710 A / G
gnomAD v4:
chr8-126999710-A-G
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Linked Data - NCBI & NCI
dbSNP:
978696974
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126999710A>G , CM000670.2:g.126999710A>G
GRCh38
NC_000008.10:g.128011955A>G , CM000670.1:g.128011955A>G
GRCh37
NC_000008.9:g.128081137A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746076.2:n.1301-6845A>G
Search 100 bp 5'
Search 100 bp 3'