Linked Data
ClinVar Variation Id:
1057636
dbSNP Id:
rs774089446
ExAC:
2:228173942 G / A
gnomAD v2:
2-228173942-G-A
gnomAD v3:
2-227309226-G-A
gnomAD v4:
2-227309226-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227309226G>A , CM000664.2:g.227309226G>A | GRCh38 |
| NC_000002.11:g.228173942G>A , CM000664.1:g.228173942G>A | GRCh37 |
| NC_000002.10:g.227882186G>A | NCBI36 |
| NG_011591.1:g.149662G>A , LRG_230:g.149662G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.1921G>A (COL4A3) | ||
| ENST00000682257.1:n.58G>A (COL4A3) | ||
| ENST00000683077.1:n.145G>A (COL4A3) | ||
| ENST00000684413.1:n.2230G>A (COL4A3) | ||
| ENST00000684724.1:n.84G>A (COL4A3) | ||
| ENST00000396578.8:c.4663G>A (COL4A3) MANE Select | ENSP00000379823.3:p.Ala1555Thr | |
| ENST00000469504.2:c.456G>A (COL4A3) | ENSP00000493493.1:p.Leu152= | |
| ENST00000643388.1:c.349G>A (COL4A3) | ENSP00000495177.1:p.Ala117Thr | |
| ENST00000396578.7:c.4663G>A (COL4A3) | ENSP00000379823.3:p.Ala1555Thr | |
| ENST00000469504.1:n.171G>A (COL4A3) | ||
| NM_000091.4:c.4663G>A , LRG_230t1:c.4663G>A (COL4A3) | NP_000082.2:p.Ala1555Thr | |
| NR_102371.1:n.48-3571C>T (MFF-DT) | ||
| XM_005246276.2:c.4663G>A (COL4A3) | XP_005246333.1:p.Ala1555Thr | |
| XM_005246277.2:c.4558G>A (COL4A3) | XP_005246334.1:p.Ala1520Thr | |
| XM_011510555.1:c.4663G>A (COL4A3) | XP_011508857.1:p.Ala1555Thr | |
| XM_011510556.1:c.3424G>A (COL4A3) | XP_011508858.1:p.Ala1142Thr | |
| XR_241280.2:n.4623G>A (COL4A3) | ||
| XM_005246277.3:c.4558G>A (COL4A3) | XP_005246334.1:p.Ala1520Thr | |
| XM_011510556.2:c.3424G>A (COL4A3) | XP_011508858.1:p.Ala1142Thr | |
| XR_241280.3:n.4623G>A (COL4A3) | ||
| NM_000091.5:c.4663G>A (COL4A3) MANE Select | NP_000082.2:p.Ala1555Thr |