ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA171090005
Gene:
Linked Data
dbSNP Id:
rs1047391483
gnomAD v2:
8-4875033-T-C
gnomAD v3:
8-5017511-T-C
gnomAD v4:
8-5017511-T-C
MyVariant Identifiers:
chr8:g.4875033T>C (hg19)
chr8:g.5017511T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.5017511T>C , CM000670.2:g.5017511T>C
GRCh38
NC_000008.10:g.4875033T>C , CM000670.1:g.4875033T>C
GRCh37
NC_000008.9:g.4862441T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'