ClinGen Allele Registry
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Canonical Allele Identifier:
CA185510894
Gene:
Linked Data
dbSNP Id:
rs192982266
gnomAD v2:
8-126490836-A-G
gnomAD v3:
8-125478594-A-G
gnomAD v4:
8-125478594-A-G
MyVariant Identifiers:
chr8:g.126490836A>G (hg19)
chr8:g.125478594A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125478594A>G , CM000670.2:g.125478594A>G
GRCh38
NC_000008.10:g.126490836A>G , CM000670.1:g.126490836A>G
GRCh37
NC_000008.9:g.126560018A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+5280A>G
Search 100 bp 5'
Search 100 bp 3'