This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0078194 (SAS)
Genomes Max Group AF
0.00606876 (SAS)
Exomes Max Group AF
0.00781907 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6845615G>A , CM000674.2:g.6845615G>A | GRCh38 |
| NC_000012.11:g.6954779G>A , CM000674.1:g.6954779G>A | GRCh37 |
| NC_000012.10:g.6825040G>A | NCBI36 |
| NG_009100.1:g.10405G>A | |
| NG_009100.2:g.10405G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229264.8:c.729G>A (GNB3) MANE Select | ENSP00000229264.3:p.Thr243= | |
| ENST00000229264.7:c.729G>A (GNB3) | ENSP00000229264.3:p.Thr243= | |
| ENST00000422785.7:c.*1173C>T (CDCA3) | ENSP00000415142.2:n.*1173C>T | |
| ENST00000435982.6:c.726G>A (GNB3) | ENSP00000414734.2:p.Thr242= | |
| ENST00000537035.1:c.606G>A (GNB3) | ENSP00000445967.1:p.Thr202= | |
| ENST00000540458.5:n.2080G>A (GNB3) | ||
| ENST00000542751.1:n.249G>A (GNB3) | ||
| ENST00000603043.1:n.1239C>T (CDCA3) | ||
| ENST00000604599.1:n.2101C>T (CDCA3) | ||
| NM_001297571.1:c.726G>A (GNB3) | NP_001284500.1:p.Thr242= | |
| NM_002075.3:c.729G>A (GNB3) | NP_002066.1:p.Thr243= | |
| XM_011520953.1:c.729G>A (GNB3) | XP_011519255.1:p.Thr243= | |
| XM_011520954.1:c.726G>A (GNB3) | XP_011519256.1:p.Thr242= | |
| XM_011521027.1:c.*1914C>T (CDCA3) | XP_011519329.1:n.*1914C>T | |
| XM_011521028.1:c.*1914C>T (CDCA3) | XP_011519330.1:n.*1914C>T | |
| XM_011521029.1:c.*2132C>T (CDCA3) | XP_011519331.1:n.*2132C>T | |
| XM_011521030.1:c.*2065C>T (CDCA3) | XP_011519332.1:n.*2065C>T | |
| XM_011520953.3:c.729G>A (GNB3) | XP_011519255.1:p.Thr243= | |
| XR_001748879.2:n.3459C>T (CDCA3) | ||
| XR_001748880.2:n.2810C>T (CDCA3) | ||
| XR_001748881.2:n.2719C>T (CDCA3) | ||
| XR_002957383.1:n.2961C>T (CDCA3) | ||
| XR_002957384.1:n.3872C>T (CDCA3) | ||
| XR_002957385.1:n.3352C>T (CDCA3) | ||
| NM_001297571.2:c.726G>A (GNB3) | NP_001284500.1:p.Thr242= | |
| NM_002075.4:c.729G>A (GNB3) MANE Select | NP_002066.1:p.Thr243= | |
| NM_001297603.3:c.*1173C>T (CDCA3) | NP_001284532.1:n.*1173C>T |