Linked Data
ClinVar Variation Id:
17492
dbSNP Id:
rs267606745
gnomAD v2:
2-228159760-G-A
gnomAD v3:
2-227295044-G-A
gnomAD v4:
2-227295044-G-A
PubMed:
PMID:11134255
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227295044G>A , CM000664.2:g.227295044G>A | GRCh38 |
| NC_000002.11:g.228159760G>A , CM000664.1:g.228159760G>A | GRCh37 |
| NC_000002.10:g.227868004G>A | NCBI36 |
| NG_011591.1:g.135480G>A , LRG_230:g.135480G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396578.8:c.3499G>A (COL4A3) MANE Select | ENSP00000379823.3:p.Gly1167Arg | |
| ENST00000396578.7:c.3499G>A (COL4A3) | ENSP00000379823.3:p.Gly1167Arg | |
| NM_000091.4:c.3499G>A , LRG_230t1:c.3499G>A (COL4A3) | NP_000082.2:p.Gly1167Arg | |
| NR_102371.1:n.243+10416C>T (MFF-DT) | ||
| XM_005246276.2:c.3499G>A (COL4A3) | XP_005246333.1:p.Gly1167Arg | |
| XM_005246277.2:c.3394G>A (COL4A3) | XP_005246334.1:p.Gly1132Arg | |
| XM_006712245.2:c.3499G>A (COL4A3) | XP_006712308.1:p.Gly1167Arg | |
| XM_011510555.1:c.3499G>A (COL4A3) | XP_011508857.1:p.Gly1167Arg | |
| XM_011510556.1:c.2260G>A (COL4A3) | XP_011508858.1:p.Gly754Arg | |
| XR_241280.2:n.3637G>A (COL4A3) | ||
| XM_005246277.3:c.3394G>A (COL4A3) | XP_005246334.1:p.Gly1132Arg | |
| XM_006712245.3:c.3499G>A (COL4A3) | XP_006712308.1:p.Gly1167Arg | |
| XM_011510556.2:c.2260G>A (COL4A3) | XP_011508858.1:p.Gly754Arg | |
| XR_001738601.1:n.3637G>A (COL4A3) | ||
| XR_241280.3:n.3637G>A (COL4A3) | ||
| NM_000091.5:c.3499G>A (COL4A3) MANE Select | NP_000082.2:p.Gly1167Arg |