Linked Data
dbSNP Id:
rs753032877
ExAC:
2:228176583 C / A
gnomAD v2:
2-228176583-C-A
gnomAD v3:
2-227311867-C-A
gnomAD v4:
2-227311867-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227311867C>A , CM000664.2:g.227311867C>A | GRCh38 |
| NC_000002.11:g.228176583C>A , CM000664.1:g.228176583C>A | GRCh37 |
| NC_000002.10:g.227884827C>A | NCBI36 |
| NG_011591.1:g.152303C>A , LRG_230:g.152303C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.2268C>A (COL4A3) | ||
| ENST00000682257.1:n.232C>A (COL4A3) | ||
| ENST00000682970.1:n.308C>A (COL4A3) | ||
| ENST00000683077.1:n.1949C>A (COL4A3) | ||
| ENST00000684413.1:n.2577C>A (COL4A3) | ||
| ENST00000684724.1:n.431C>A (COL4A3) | ||
| ENST00000396578.8:c.5010C>A (COL4A3) MANE Select | ENSP00000379823.3:p.His1670Gln | |
| ENST00000469504.2:c.803C>A (COL4A3) | ENSP00000493493.1:n.803C>A | |
| ENST00000643388.1:c.523C>A (COL4A3) | ENSP00000495177.1:p.Leu175Met | |
| ENST00000396578.7:c.5010C>A (COL4A3) | ENSP00000379823.3:p.His1670Gln | |
| ENST00000469504.1:n.518C>A (COL4A3) | ||
| NM_000091.4:c.5010C>A , LRG_230t1:c.5010C>A (COL4A3) | NP_000082.2:p.His1670Gln | |
| NR_102371.1:n.48-6212G>T (MFF-DT) | ||
| XM_005246276.2:c.4837C>A (COL4A3) | XP_005246333.1:p.Leu1613Met | |
| XM_005246277.2:c.4905C>A (COL4A3) | XP_005246334.1:p.His1635Gln | |
| XM_011510556.1:c.3771C>A (COL4A3) | XP_011508858.1:p.His1257Gln | |
| XR_241280.2:n.4970C>A (COL4A3) | ||
| XM_005246277.3:c.4905C>A (COL4A3) | XP_005246334.1:p.His1635Gln | |
| XM_011510556.2:c.3771C>A (COL4A3) | XP_011508858.1:p.His1257Gln | |
| XR_241280.3:n.4970C>A (COL4A3) | ||
| NM_000091.5:c.5010C>A (COL4A3) MANE Select | NP_000082.2:p.His1670Gln |