ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA185688674
Gene:
Linked Data
dbSNP Id:
rs1009377466
gnomAD v3:
8-126999558-A-T
gnomAD v4:
8-126999558-A-T
MyVariant Identifiers:
chr8:g.128011803A>T (hg19)
chr8:g.126999558A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126999558A>T , CM000670.2:g.126999558A>T
GRCh38
NC_000008.10:g.128011803A>T , CM000670.1:g.128011803A>T
GRCh37
NC_000008.9:g.128080985A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746076.2:n.1301-6997A>T
Search 100 bp 5'
Search 100 bp 3'