Linked Data
ClinVar Variation Id:
266006
dbSNP Id:
rs869025328
gnomAD v2:
2-228118354-G-A
gnomAD v3:
2-227253638-G-A
gnomAD v4:
2-227253638-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227253638G>A , CM000664.2:g.227253638G>A | GRCh38 |
| NC_000002.11:g.228118354G>A , CM000664.1:g.228118354G>A | GRCh37 |
| NC_000002.10:g.227826598G>A | NCBI36 |
| NG_011591.1:g.94074G>A , LRG_230:g.94074G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.765G>A (COL4A3) MANE Select | ENSP00000379823.3:p.Thr255= | |
| ENST00000396578.7:c.765G>A (COL4A3) | ENSP00000379823.3:p.Thr255= | |
| NM_000091.4:c.765G>A , LRG_230t1:c.765G>A (COL4A3) | NP_000082.2:p.Thr255= | |
| NR_102371.1:n.1592+5540C>T (MFF-DT) | ||
| XM_005246276.2:c.765G>A (COL4A3) | XP_005246333.1:p.Thr255= | |
| XM_005246277.2:c.765G>A (COL4A3) | XP_005246334.1:p.Thr255= | |
| XM_005246280.2:c.765G>A (COL4A3) | XP_005246337.1:p.Thr255= | |
| XM_006712245.2:c.765G>A (COL4A3) | XP_006712308.1:p.Thr255= | |
| XM_011510555.1:c.765G>A (COL4A3) | XP_011508857.1:p.Thr255= | |
| XR_241280.2:n.903G>A (COL4A3) | ||
| XM_005246277.3:c.765G>A (COL4A3) | XP_005246334.1:p.Thr255= | |
| XM_005246280.3:c.765G>A (COL4A3) | XP_005246337.1:p.Thr255= | |
| XM_006712245.3:c.765G>A (COL4A3) | XP_006712308.1:p.Thr255= | |
| XM_017003295.1:c.765G>A (COL4A3) | XP_016858784.1:p.Thr255= | |
| XR_001738601.1:n.903G>A (COL4A3) | ||
| XR_241280.3:n.903G>A (COL4A3) | ||
| NM_000091.5:c.765G>A (COL4A3) MANE Select | NP_000082.2:p.Thr255= |