ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA12841207
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.80445467C>T
GRCh37
chr8:g.81357702C>T
Linked Data - Sequence & Population
gnomAD v2:
8:81357702 C / T
gnomAD v3:
8:80445467 C / T
gnomAD v4:
chr8-80445467-C-T
Joint Max Group AF
0.82264692 (AFR)
Genomes Max Group AF
0.82264692 (AFR)
Linked Data - NCBI & NCI
dbSNP:
400824
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.80445467C>T , CM000670.2:g.80445467C>T
GRCh38
NC_000008.10:g.81357702C>T , CM000670.1:g.81357702C>T
GRCh37
NC_000008.9:g.81520257C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_929097.1:n.231-927G>A
Search 100 bp 5'
Search 100 bp 3'