Revel Score:
ENST00000396578 (MANE Select)
0.933
ENST00000328380
0.933
ENST00000335583
0.933
ENST00000396574
0.933
ENST00000315699
0.933
ENST00000304990
0.933
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002551 (AFR)
Genomes Max Group AF
0.00001922 (AFR)
Exomes Max Group AF
0.0000099 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227289222G>A , CM000664.2:g.227289222G>A | GRCh38 |
| NC_000002.11:g.228153938G>A , CM000664.1:g.228153938G>A | GRCh37 |
| NC_000002.10:g.227862182G>A | NCBI36 |
| NG_011591.1:g.129658G>A , LRG_230:g.129658G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.2954G>A (COL4A3) MANE Select | ENSP00000379823.3:p.Gly985Glu | |
| ENST00000304990.8:c.65G>A (COL4A3) | ENSP00000302781.8:p.Gly22Glu | |
| ENST00000396578.7:c.2954G>A (COL4A3) | ENSP00000379823.3:p.Gly985Glu | |
| ENST00000487633.1:n.115G>A (COL4A3) | ||
| NM_000091.4:c.2954G>A , LRG_230t1:c.2954G>A (COL4A3) | NP_000082.2:p.Gly985Glu | |
| NR_102371.1:n.244-7433C>T (MFF-DT) | ||
| XM_005246276.2:c.2954G>A (COL4A3) | XP_005246333.1:p.Gly985Glu | |
| XM_005246277.2:c.2849G>A (COL4A3) | XP_005246334.1:p.Gly950Glu | |
| XM_005246280.2:c.2954G>A (COL4A3) | XP_005246337.1:p.Gly985Glu | |
| XM_006712245.2:c.2954G>A (COL4A3) | XP_006712308.1:p.Gly985Glu | |
| XM_011510555.1:c.2954G>A (COL4A3) | XP_011508857.1:p.Gly985Glu | |
| XM_011510556.1:c.1715G>A (COL4A3) | XP_011508858.1:p.Gly572Glu | |
| XR_241280.2:n.3092G>A (COL4A3) | ||
| XM_005246277.3:c.2849G>A (COL4A3) | XP_005246334.1:p.Gly950Glu | |
| XM_005246280.3:c.2954G>A (COL4A3) | XP_005246337.1:p.Gly985Glu | |
| XM_006712245.3:c.2954G>A (COL4A3) | XP_006712308.1:p.Gly985Glu | |
| XM_011510556.2:c.1715G>A (COL4A3) | XP_011508858.1:p.Gly572Glu | |
| XM_017003295.1:c.2954G>A (COL4A3) | XP_016858784.1:p.Gly985Glu | |
| XR_001738601.1:n.3092G>A (COL4A3) | ||
| XR_241280.3:n.3092G>A (COL4A3) | ||
| NM_000091.5:c.2954G>A (COL4A3) MANE Select | NP_000082.2:p.Gly985Glu |