ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA185688653
Gene:
Linked Data
dbSNP Id:
rs188787569
gnomAD v2:
8-128011684-A-G
gnomAD v3:
8-126999439-A-G
gnomAD v4:
8-126999439-A-G
MyVariant Identifiers:
chr8:g.128011684A>G (hg19)
chr8:g.126999439A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126999439A>G , CM000670.2:g.126999439A>G
GRCh38
NC_000008.10:g.128011684A>G , CM000670.1:g.128011684A>G
GRCh37
NC_000008.9:g.128080866A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746076.2:n.1301-7116A>G
Search 100 bp 5'
Search 100 bp 3'