Linked Data
dbSNP Id:
rs756020666
ExAC:
2:228173927 G / A
gnomAD v2:
2-228173927-G-A
gnomAD v4:
2-227309211-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227309211G>A , CM000664.2:g.227309211G>A | GRCh38 |
| NC_000002.11:g.228173927G>A , CM000664.1:g.228173927G>A | GRCh37 |
| NC_000002.10:g.227882171G>A | NCBI36 |
| NG_011591.1:g.149647G>A , LRG_230:g.149647G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.1906G>A (COL4A3) | ||
| ENST00000682257.1:n.43G>A (COL4A3) | ||
| ENST00000683077.1:n.130G>A (COL4A3) | ||
| ENST00000684413.1:n.2215G>A (COL4A3) | ||
| ENST00000684724.1:n.69G>A (COL4A3) | ||
| ENST00000396578.8:c.4648G>A (COL4A3) MANE Select | ENSP00000379823.3:p.Val1550Ile | |
| ENST00000469504.2:c.441G>A (COL4A3) | ENSP00000493493.1:p.Leu147= | |
| ENST00000643388.1:c.334G>A (COL4A3) | ENSP00000495177.1:p.Val112Ile | |
| ENST00000396578.7:c.4648G>A (COL4A3) | ENSP00000379823.3:p.Val1550Ile | |
| ENST00000469504.1:n.156G>A (COL4A3) | ||
| NM_000091.4:c.4648G>A , LRG_230t1:c.4648G>A (COL4A3) | NP_000082.2:p.Val1550Ile | |
| NR_102371.1:n.48-3556C>T (MFF-DT) | ||
| XM_005246276.2:c.4648G>A (COL4A3) | XP_005246333.1:p.Val1550Ile | |
| XM_005246277.2:c.4543G>A (COL4A3) | XP_005246334.1:p.Val1515Ile | |
| XM_011510555.1:c.4648G>A (COL4A3) | XP_011508857.1:p.Val1550Ile | |
| XM_011510556.1:c.3409G>A (COL4A3) | XP_011508858.1:p.Val1137Ile | |
| XR_241280.2:n.4608G>A (COL4A3) | ||
| XM_005246277.3:c.4543G>A (COL4A3) | XP_005246334.1:p.Val1515Ile | |
| XM_011510556.2:c.3409G>A (COL4A3) | XP_011508858.1:p.Val1137Ile | |
| XR_241280.3:n.4608G>A (COL4A3) | ||
| NM_000091.5:c.4648G>A (COL4A3) MANE Select | NP_000082.2:p.Val1550Ile |