ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA15098797
Gene:
Linked Data
dbSNP Id:
rs12029080
gnomAD v2:
1-95053353-T-G
gnomAD v3:
1-94587797-T-G
gnomAD v4:
1-94587797-T-G
MyVariant Identifiers:
chr1:g.95053353T>G (hg19)
chr1:g.94587797T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.94587797T>G , CM000663.2:g.94587797T>G
GRCh38
NC_000001.10:g.95053353T>G , CM000663.1:g.95053353T>G
GRCh37
NC_000001.9:g.94825941T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001738161.1:n.461+24184T>G
Search 100 bp 5'
Search 100 bp 3'