Revel Score:
ENST00000396578 (MANE Select)
0.963
ENST00000328380
0.963
ENST00000335583
0.963
ENST00000396574
0.963
ENST00000315699
0.963
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227303867G>T , CM000664.2:g.227303867G>T | GRCh38 |
| NC_000002.11:g.228168583G>T , CM000664.1:g.228168583G>T | GRCh37 |
| NC_000002.10:g.227876827G>T | NCBI36 |
| NG_011591.1:g.144303G>T , LRG_230:g.144303G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.382G>T (COL4A3) | ||
| ENST00000396578.8:c.3964G>T (COL4A3) MANE Select | ENSP00000379823.3:p.Gly1322Cys | |
| ENST00000396578.7:c.3964G>T (COL4A3) | ENSP00000379823.3:p.Gly1322Cys | |
| ENST00000468753.5:n.627G>T (COL4A3) | ||
| ENST00000471862.1:n.382G>T (COL4A3) | ||
| NM_000091.4:c.3964G>T , LRG_230t1:c.3964G>T (COL4A3) | NP_000082.2:p.Gly1322Cys | |
| NR_102371.1:n.243+1593C>A (MFF-DT) | ||
| XM_005246276.2:c.3964G>T (COL4A3) | XP_005246333.1:p.Gly1322Cys | |
| XM_005246277.2:c.3859G>T (COL4A3) | XP_005246334.1:p.Gly1287Cys | |
| XM_011510555.1:c.3964G>T (COL4A3) | XP_011508857.1:p.Gly1322Cys | |
| XM_011510556.1:c.2725G>T (COL4A3) | XP_011508858.1:p.Gly909Cys | |
| XR_241280.2:n.4102G>T (COL4A3) | ||
| XM_005246277.3:c.3859G>T (COL4A3) | XP_005246334.1:p.Gly1287Cys | |
| XM_011510556.2:c.2725G>T (COL4A3) | XP_011508858.1:p.Gly909Cys | |
| XR_241280.3:n.4102G>T (COL4A3) | ||
| NM_000091.5:c.3964G>T (COL4A3) MANE Select | NP_000082.2:p.Gly1322Cys |