ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA584988395
Gene:
Linked Data
dbSNP Id:
rs1215461388
gnomAD v2:
8-126490734-C-A
gnomAD v3:
8-125478492-C-A
gnomAD v4:
8-125478492-C-A
MyVariant Identifiers:
chr8:g.126490734C>A (hg19)
chr8:g.125478492C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125478492C>A , CM000670.2:g.125478492C>A
GRCh38
NC_000008.10:g.126490734C>A , CM000670.1:g.126490734C>A
GRCh37
NC_000008.9:g.126559916C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+5178C>A
Search 100 bp 5'
Search 100 bp 3'