Linked Data
ClinVar Variation Id:
334778
dbSNP Id:
rs189574905
ExAC:
2:228167816 A / G
gnomAD v2:
2-228167816-A-G
gnomAD v3:
2-227303100-A-G
gnomAD v4:
2-227303100-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227303100A>G , CM000664.2:g.227303100A>G | GRCh38 |
| NC_000002.11:g.228167816A>G , CM000664.1:g.228167816A>G | GRCh37 |
| NC_000002.10:g.227876060A>G | NCBI36 |
| NG_011591.1:g.143536A>G , LRG_230:g.143536A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.363A>G (COL4A3) | ||
| ENST00000396578.8:c.3945A>G (COL4A3) MANE Select | ENSP00000379823.3:p.Pro1315= | |
| ENST00000396578.7:c.3945A>G (COL4A3) | ENSP00000379823.3:p.Pro1315= | |
| ENST00000468753.5:n.608A>G (COL4A3) | ||
| ENST00000471862.1:n.363A>G (COL4A3) | ||
| NM_000091.4:c.3945A>G , LRG_230t1:c.3945A>G (COL4A3) | NP_000082.2:p.Pro1315= | |
| NR_102371.1:n.243+2360T>C (MFF-DT) | ||
| XM_005246276.2:c.3945A>G (COL4A3) | XP_005246333.1:p.Pro1315= | |
| XM_005246277.2:c.3840A>G (COL4A3) | XP_005246334.1:p.Pro1280= | |
| XM_011510555.1:c.3945A>G (COL4A3) | XP_011508857.1:p.Pro1315= | |
| XM_011510556.1:c.2706A>G (COL4A3) | XP_011508858.1:p.Pro902= | |
| XR_241280.2:n.4083A>G (COL4A3) | ||
| XM_005246277.3:c.3840A>G (COL4A3) | XP_005246334.1:p.Pro1280= | |
| XM_011510556.2:c.2706A>G (COL4A3) | XP_011508858.1:p.Pro902= | |
| XR_241280.3:n.4083A>G (COL4A3) | ||
| NM_000091.5:c.3945A>G (COL4A3) MANE Select | NP_000082.2:p.Pro1315= |