Linked Data
ClinVar Variation Id:
2145443
ClinVar RCV Id:
RCV003071445
dbSNP Id:
rs769590145
ExAC:
2:228173596 C / CA
gnomAD v2:
2-228173596-C-CA
gnomAD v3:
2-227308880-C-CA
gnomAD v4:
2-227308880-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227308881dup , CM000664.2:g.227308881dup | GRCh38 |
| NC_000002.11:g.228173597dup , CM000664.1:g.228173597dup | GRCh37 |
| NC_000002.10:g.227881841dup | NCBI36 |
| NG_011591.1:g.149317dup , LRG_230:g.149317dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.1721-18dup (COL4A3) | ||
| ENST00000684413.1:n.1885dup (COL4A3) | ||
| ENST00000396578.8:c.4463-18dup (COL4A3) MANE Select | ENSP00000379823.3:n.4463-18dup | |
| ENST00000469504.2:c.434-323dup (COL4A3) | ENSP00000493493.1:n.434-323dup | |
| ENST00000643388.1:c.149-18dup (COL4A3) | ENSP00000495177.1:n.149-18dup | |
| ENST00000396578.7:c.4463-18dup (COL4A3) | ENSP00000379823.3:n.4463-18dup | |
| ENST00000469504.1:n.149-323dup (COL4A3) | ||
| NM_000091.4:c.4463-18dup , LRG_230t1:c.4463-18dup (COL4A3) | NP_000082.2:n.4463-18dup | |
| NR_102371.1:n.48-3226dup (MFF-DT) | ||
| XM_005246276.2:c.4463-18dup (COL4A3) | XP_005246333.1:n.4463-18dup | |
| XM_005246277.2:c.4358-18dup (COL4A3) | XP_005246334.1:n.4358-18dup | |
| XM_011510555.1:c.4463-18dup (COL4A3) | XP_011508857.1:n.4463-18dup | |
| XM_011510556.1:c.3224-18dup (COL4A3) | XP_011508858.1:n.3224-18dup | |
| XR_241280.2:n.4601-323dup (COL4A3) | ||
| XM_005246277.3:c.4358-18dup (COL4A3) | XP_005246334.1:n.4358-18dup | |
| XM_011510556.2:c.3224-18dup (COL4A3) | XP_011508858.1:n.3224-18dup | |
| XR_241280.3:n.4601-323dup (COL4A3) | ||
| NM_000091.5:c.4463-18dup (COL4A3) MANE Select | NP_000082.2:n.4463-18dup |