Linked Data
dbSNP Id:
rs193076251
ExAC:
2:228176548 A / G
gnomAD v2:
2-228176548-A-G
gnomAD v3:
2-227311832-A-G
gnomAD v4:
2-227311832-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227311832A>G , CM000664.2:g.227311832A>G | GRCh38 |
| NC_000002.11:g.228176548A>G , CM000664.1:g.228176548A>G | GRCh37 |
| NC_000002.10:g.227884792A>G | NCBI36 |
| NG_011591.1:g.152268A>G , LRG_230:g.152268A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.2233A>G (COL4A3) | ||
| ENST00000682257.1:n.197A>G (COL4A3) | ||
| ENST00000682970.1:n.273A>G (COL4A3) | ||
| ENST00000683077.1:n.1914A>G (COL4A3) | ||
| ENST00000684413.1:n.2542A>G (COL4A3) | ||
| ENST00000684724.1:n.396A>G (COL4A3) | ||
| ENST00000396578.8:c.4975A>G (COL4A3) MANE Select | ENSP00000379823.3:p.Ile1659Val | |
| ENST00000469504.2:c.768A>G (COL4A3) | ENSP00000493493.1:n.768A>G | |
| ENST00000643388.1:c.488A>G (COL4A3) | ENSP00000495177.1:p.Asn163Ser | |
| ENST00000396578.7:c.4975A>G (COL4A3) | ENSP00000379823.3:p.Ile1659Val | |
| ENST00000469504.1:n.483A>G (COL4A3) | ||
| NM_000091.4:c.4975A>G , LRG_230t1:c.4975A>G (COL4A3) | NP_000082.2:p.Ile1659Val | |
| NR_102371.1:n.48-6177T>C (MFF-DT) | ||
| XM_005246276.2:c.4802A>G (COL4A3) | XP_005246333.1:p.Asn1601Ser | |
| XM_005246277.2:c.4870A>G (COL4A3) | XP_005246334.1:p.Ile1624Val | |
| XM_011510556.1:c.3736A>G (COL4A3) | XP_011508858.1:p.Ile1246Val | |
| XR_241280.2:n.4935A>G (COL4A3) | ||
| XM_005246277.3:c.4870A>G (COL4A3) | XP_005246334.1:p.Ile1624Val | |
| XM_011510556.2:c.3736A>G (COL4A3) | XP_011508858.1:p.Ile1246Val | |
| XR_241280.3:n.4935A>G (COL4A3) | ||
| NM_000091.5:c.4975A>G (COL4A3) MANE Select | NP_000082.2:p.Ile1659Val |