Linked Data
ClinVar Variation Id:
445315
dbSNP Id:
rs376550779
ExAC:
2:228176567 G / A
gnomAD v2:
2-228176567-G-A
gnomAD v3:
2-227311851-G-A
gnomAD v4:
2-227311851-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227311851G>A , CM000664.2:g.227311851G>A | GRCh38 |
| NC_000002.11:g.228176567G>A , CM000664.1:g.228176567G>A | GRCh37 |
| NC_000002.10:g.227884811G>A | NCBI36 |
| NG_011591.1:g.152287G>A , LRG_230:g.152287G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.2252G>A (COL4A3) | ||
| ENST00000682257.1:n.216G>A (COL4A3) | ||
| ENST00000682970.1:n.292G>A (COL4A3) | ||
| ENST00000683077.1:n.1933G>A (COL4A3) | ||
| ENST00000684413.1:n.2561G>A (COL4A3) | ||
| ENST00000684724.1:n.415G>A (COL4A3) | ||
| ENST00000396578.8:c.4994G>A (COL4A3) MANE Select | ENSP00000379823.3:p.Cys1665Tyr | |
| ENST00000469504.2:c.787G>A (COL4A3) | ENSP00000493493.1:n.787G>A | |
| ENST00000643388.1:c.507G>A (COL4A3) | ENSP00000495177.1:p.Val169= | |
| ENST00000396578.7:c.4994G>A (COL4A3) | ENSP00000379823.3:p.Cys1665Tyr | |
| ENST00000469504.1:n.502G>A (COL4A3) | ||
| NM_000091.4:c.4994G>A , LRG_230t1:c.4994G>A (COL4A3) | NP_000082.2:p.Cys1665Tyr | |
| NR_102371.1:n.48-6196C>T (MFF-DT) | ||
| XM_005246276.2:c.4821G>A (COL4A3) | XP_005246333.1:p.Val1607= | |
| XM_005246277.2:c.4889G>A (COL4A3) | XP_005246334.1:p.Cys1630Tyr | |
| XM_011510556.1:c.3755G>A (COL4A3) | XP_011508858.1:p.Cys1252Tyr | |
| XR_241280.2:n.4954G>A (COL4A3) | ||
| XM_005246277.3:c.4889G>A (COL4A3) | XP_005246334.1:p.Cys1630Tyr | |
| XM_011510556.2:c.3755G>A (COL4A3) | XP_011508858.1:p.Cys1252Tyr | |
| XR_241280.3:n.4954G>A (COL4A3) | ||
| NM_000091.5:c.4994G>A (COL4A3) MANE Select | NP_000082.2:p.Cys1665Tyr |