Linked Data
dbSNP Id:
rs1322053797
gnomAD v2:
2-228173680-G-T
gnomAD v3:
2-227308964-G-T
gnomAD v4:
2-227308964-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227308964G>T , CM000664.2:g.227308964G>T | GRCh38 |
| NC_000002.11:g.228173680G>T , CM000664.1:g.228173680G>T | GRCh37 |
| NC_000002.10:g.227881924G>T | NCBI36 |
| NG_011591.1:g.149400G>T , LRG_230:g.149400G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.1786G>T (COL4A3) | ||
| ENST00000683077.1:n.10G>T (COL4A3) | ||
| ENST00000684413.1:n.1968G>T (COL4A3) | ||
| ENST00000396578.8:c.4528G>T (COL4A3) MANE Select | ENSP00000379823.3:p.Val1510Leu | |
| ENST00000469504.2:c.434-240G>T (COL4A3) | ENSP00000493493.1:n.434-240G>T | |
| ENST00000643388.1:c.214G>T (COL4A3) | ENSP00000495177.1:p.Val72Leu | |
| ENST00000396578.7:c.4528G>T (COL4A3) | ENSP00000379823.3:p.Val1510Leu | |
| ENST00000469504.1:n.149-240G>T (COL4A3) | ||
| NM_000091.4:c.4528G>T , LRG_230t1:c.4528G>T (COL4A3) | NP_000082.2:p.Val1510Leu | |
| NR_102371.1:n.48-3309C>A (MFF-DT) | ||
| XM_005246276.2:c.4528G>T (COL4A3) | XP_005246333.1:p.Val1510Leu | |
| XM_005246277.2:c.4423G>T (COL4A3) | XP_005246334.1:p.Val1475Leu | |
| XM_011510555.1:c.4528G>T (COL4A3) | XP_011508857.1:p.Val1510Leu | |
| XM_011510556.1:c.3289G>T (COL4A3) | XP_011508858.1:p.Val1097Leu | |
| XR_241280.2:n.4601-240G>T (COL4A3) | ||
| XM_005246277.3:c.4423G>T (COL4A3) | XP_005246334.1:p.Val1475Leu | |
| XM_011510556.2:c.3289G>T (COL4A3) | XP_011508858.1:p.Val1097Leu | |
| XR_241280.3:n.4601-240G>T (COL4A3) | ||
| NM_000091.5:c.4528G>T (COL4A3) MANE Select | NP_000082.2:p.Val1510Leu |