Linked Data
ClinVar Variation Id:
334773
dbSNP Id:
rs754483986
ExAC:
2:228159672 T / G
gnomAD v2:
2-228159672-T-G
gnomAD v3:
2-227294956-T-G
gnomAD v4:
2-227294956-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227294956T>G , CM000664.2:g.227294956T>G | GRCh38 |
| NC_000002.11:g.228159672T>G , CM000664.1:g.228159672T>G | GRCh37 |
| NC_000002.10:g.227867916T>G | NCBI36 |
| NG_011591.1:g.135392T>G , LRG_230:g.135392T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.3419-8T>G (COL4A3) MANE Select | ENSP00000379823.3:n.3419-8T>G | |
| ENST00000396578.7:c.3419-8T>G (COL4A3) | ENSP00000379823.3:n.3419-8T>G | |
| NM_000091.4:c.3419-8T>G , LRG_230t1:c.3419-8T>G (COL4A3) | NP_000082.2:n.3419-8T>G | |
| NR_102371.1:n.243+10504A>C (MFF-DT) | ||
| XM_005246276.2:c.3419-8T>G (COL4A3) | XP_005246333.1:n.3419-8T>G | |
| XM_005246277.2:c.3314-8T>G (COL4A3) | XP_005246334.1:n.3314-8T>G | |
| XM_006712245.2:c.3419-8T>G (COL4A3) | XP_006712308.1:n.3419-8T>G | |
| XM_011510555.1:c.3419-8T>G (COL4A3) | XP_011508857.1:n.3419-8T>G | |
| XM_011510556.1:c.2180-8T>G (COL4A3) | XP_011508858.1:n.2180-8T>G | |
| XR_241280.2:n.3557-8T>G (COL4A3) | ||
| XM_005246277.3:c.3314-8T>G (COL4A3) | XP_005246334.1:n.3314-8T>G | |
| XM_006712245.3:c.3419-8T>G (COL4A3) | XP_006712308.1:n.3419-8T>G | |
| XM_011510556.2:c.2180-8T>G (COL4A3) | XP_011508858.1:n.2180-8T>G | |
| XR_001738601.1:n.3557-8T>G (COL4A3) | ||
| XR_241280.3:n.3557-8T>G (COL4A3) | ||
| NM_000091.5:c.3419-8T>G (COL4A3) MANE Select | NP_000082.2:n.3419-8T>G |