Linked Data
ClinVar Variation Id:
334792
ClinVar RCV Id:
RCV000271870
dbSNP Id:
rs2070735
gnomAD v2:
2-228176901-A-C
gnomAD v3:
2-227312185-A-C
gnomAD v4:
2-227312185-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227312185A>C , CM000664.2:g.227312185A>C | GRCh38 |
| NC_000002.11:g.228176901A>C , CM000664.1:g.228176901A>C | GRCh37 |
| NC_000002.10:g.227885145A>C | NCBI36 |
| NG_011591.1:g.152621A>C , LRG_230:g.152621A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.2586A>C (COL4A3) | ||
| ENST00000682257.1:n.550A>C (COL4A3) | ||
| ENST00000682970.1:n.626A>C (COL4A3) | ||
| ENST00000683077.1:n.2267A>C (COL4A3) | ||
| ENST00000684413.1:n.2895A>C (COL4A3) | ||
| ENST00000684724.1:n.749A>C (COL4A3) | ||
| ENST00000396578.8:c.*315A>C (COL4A3) MANE Select | ENSP00000379823.3:n.*315A>C | |
| ENST00000396578.7:c.*315A>C (COL4A3) | ENSP00000379823.3:n.*315A>C | |
| NM_000091.4:c.*315A>C , LRG_230t1:c.*315A>C (COL4A3) | NP_000082.2:n.*315A>C | |
| NR_102371.1:n.48-6530T>G (MFF-DT) | ||
| XM_005246276.2:c.*241A>C (COL4A3) | XP_005246333.1:n.*241A>C | |
| XM_005246277.2:c.*315A>C (COL4A3) | XP_005246334.1:n.*315A>C | |
| XM_011510556.1:c.*315A>C (COL4A3) | XP_011508858.1:n.*315A>C | |
| XR_241280.2:n.5288A>C (COL4A3) | ||
| XM_005246277.3:c.*315A>C (COL4A3) | XP_005246334.1:n.*315A>C | |
| XM_011510556.2:c.*315A>C (COL4A3) | XP_011508858.1:n.*315A>C | |
| XR_241280.3:n.5288A>C (COL4A3) | ||
| NM_000091.5:c.*315A>C (COL4A3) MANE Select | NP_000082.2:n.*315A>C |