ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA185688693
Gene:
Linked Data
dbSNP Id:
rs755361832
gnomAD v2:
8-128011918-A-C
gnomAD v3:
8-126999673-A-C
gnomAD v4:
8-126999673-A-C
MyVariant Identifiers:
chr8:g.128011918A>C (hg19)
chr8:g.126999673A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126999673A>C , CM000670.2:g.126999673A>C
GRCh38
NC_000008.10:g.128011918A>C , CM000670.1:g.128011918A>C
GRCh37
NC_000008.9:g.128081100A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001746076.2:n.1301-6882A>C
Search 100 bp 5'
Search 100 bp 3'