Linked Data
ClinVar Variation Id:
334781
dbSNP Id:
rs886055742
gnomAD v3:
2-227304091-G-C
gnomAD v4:
2-227304091-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227304091G>C , CM000664.2:g.227304091G>C | GRCh38 |
| NC_000002.11:g.228168807G>C , CM000664.1:g.228168807G>C | GRCh37 |
| NC_000002.10:g.227877051G>C | NCBI36 |
| NG_011591.1:g.144527G>C , LRG_230:g.144527G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.518G>C (COL4A3) | ||
| ENST00000396578.8:c.4100G>C (COL4A3) MANE Select | ENSP00000379823.3:p.Gly1367Ala | |
| ENST00000469504.2:c.71G>C (COL4A3) | ENSP00000493493.1:p.Gly24Ala | |
| ENST00000396578.7:c.4100G>C (COL4A3) | ENSP00000379823.3:p.Gly1367Ala | |
| ENST00000471862.1:n.518G>C (COL4A3) | ||
| NM_000091.4:c.4100G>C , LRG_230t1:c.4100G>C (COL4A3) | NP_000082.2:p.Gly1367Ala | |
| NR_102371.1:n.243+1369C>G (MFF-DT) | ||
| XM_005246276.2:c.4100G>C (COL4A3) | XP_005246333.1:p.Gly1367Ala | |
| XM_005246277.2:c.3995G>C (COL4A3) | XP_005246334.1:p.Gly1332Ala | |
| XM_011510555.1:c.4100G>C (COL4A3) | XP_011508857.1:p.Gly1367Ala | |
| XM_011510556.1:c.2861G>C (COL4A3) | XP_011508858.1:p.Gly954Ala | |
| XR_241280.2:n.4238G>C (COL4A3) | ||
| XM_005246277.3:c.3995G>C (COL4A3) | XP_005246334.1:p.Gly1332Ala | |
| XM_011510556.2:c.2861G>C (COL4A3) | XP_011508858.1:p.Gly954Ala | |
| XR_241280.3:n.4238G>C (COL4A3) | ||
| NM_000091.5:c.4100G>C (COL4A3) MANE Select | NP_000082.2:p.Gly1367Ala |