ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA12797728
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.125478730A>T
GRCh37
chr8:g.126490972A>T
Linked Data - Sequence & Population
gnomAD v2:
8:126490972 A / T
gnomAD v3:
8:125478730 A / T
gnomAD v4:
chr8-125478730-A-T
Joint Max Group AF
0.50604467 (EAS)
Genomes Max Group AF
0.50604467 (EAS)
Linked Data - NCBI & NCI
dbSNP:
2954029
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125478730A>T , CM000670.2:g.125478730A>T
GRCh38
NC_000008.10:g.126490972A>T , CM000670.1:g.126490972A>T
GRCh37
NC_000008.9:g.126560154A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+5416A>T
Search 100 bp 5'
Search 100 bp 3'