ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA12881894
Gene:
Linked Data
dbSNP Id:
rs10448044
gnomAD v2:
8-80103432-T-C
gnomAD v3:
8-79191197-T-C
gnomAD v4:
8-79191197-T-C
MyVariant Identifiers:
chr8:g.80103432T>C (hg19)
chr8:g.79191197T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.79191197T>C , CM000670.2:g.79191197T>C
GRCh38
NC_000008.10:g.80103432T>C , CM000670.1:g.80103432T>C
GRCh37
NC_000008.9:g.80265987T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745720.1:n.105+826T>C
Search 100 bp 5'
Search 100 bp 3'