Linked Data
ClinVar Variation Id:
334775
dbSNP Id:
rs147886850
ExAC:
2:228162381 T / C
gnomAD v2:
2-228162381-T-C
gnomAD v3:
2-227297665-T-C
gnomAD v4:
2-227297665-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227297665T>C , CM000664.2:g.227297665T>C | GRCh38 |
| NC_000002.11:g.228162381T>C , CM000664.1:g.228162381T>C | GRCh37 |
| NC_000002.10:g.227870625T>C | NCBI36 |
| NG_011591.1:g.138101T>C , LRG_230:g.138101T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.3566-9T>C (COL4A3) MANE Select | ENSP00000379823.3:n.3566-9T>C | |
| ENST00000396578.7:c.3566-9T>C (COL4A3) | ENSP00000379823.3:n.3566-9T>C | |
| ENST00000468753.5:n.229-9T>C (COL4A3) | ||
| NM_000091.4:c.3566-9T>C , LRG_230t1:c.3566-9T>C (COL4A3) | NP_000082.2:n.3566-9T>C | |
| NR_102371.1:n.243+7795A>G (MFF-DT) | ||
| XM_005246276.2:c.3566-9T>C (COL4A3) | XP_005246333.1:n.3566-9T>C | |
| XM_005246277.2:c.3461-9T>C (COL4A3) | XP_005246334.1:n.3461-9T>C | |
| XM_006712245.2:c.*36-9T>C (COL4A3) | XP_006712308.1:n.*36-9T>C | |
| XM_011510555.1:c.3566-9T>C (COL4A3) | XP_011508857.1:n.3566-9T>C | |
| XM_011510556.1:c.2327-9T>C (COL4A3) | XP_011508858.1:n.2327-9T>C | |
| XR_241280.2:n.3704-9T>C (COL4A3) | ||
| XM_005246277.3:c.3461-9T>C (COL4A3) | XP_005246334.1:n.3461-9T>C | |
| XM_006712245.3:c.*36-9T>C (COL4A3) | XP_006712308.1:n.*36-9T>C | |
| XM_011510556.2:c.2327-9T>C (COL4A3) | XP_011508858.1:n.2327-9T>C | |
| XR_001738601.1:n.4914-9T>C (COL4A3) | ||
| XR_241280.3:n.3704-9T>C (COL4A3) | ||
| NM_000091.5:c.3566-9T>C (COL4A3) MANE Select | NP_000082.2:n.3566-9T>C |