Linked Data
ClinVar Variation Id:
499789
dbSNP Id:
rs201671013
ExAC:
2:228173662 T / C
gnomAD v2:
2-228173662-T-C
gnomAD v3:
2-227308946-T-C
gnomAD v4:
2-227308946-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227308946T>C , CM000664.2:g.227308946T>C | GRCh38 |
| NC_000002.11:g.228173662T>C , CM000664.1:g.228173662T>C | GRCh37 |
| NC_000002.10:g.227881906T>C | NCBI36 |
| NG_011591.1:g.149382T>C , LRG_230:g.149382T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.1768T>C (COL4A3) | ||
| ENST00000684413.1:n.1950T>C (COL4A3) | ||
| ENST00000396578.8:c.4510T>C (COL4A3) MANE Select | ENSP00000379823.3:p.Phe1504Leu | |
| ENST00000469504.2:c.434-258T>C (COL4A3) | ENSP00000493493.1:n.434-258T>C | |
| ENST00000643388.1:c.196T>C (COL4A3) | ENSP00000495177.1:p.Phe66Leu | |
| ENST00000396578.7:c.4510T>C (COL4A3) | ENSP00000379823.3:p.Phe1504Leu | |
| ENST00000469504.1:n.149-258T>C (COL4A3) | ||
| NM_000091.4:c.4510T>C , LRG_230t1:c.4510T>C (COL4A3) | NP_000082.2:p.Phe1504Leu | |
| NR_102371.1:n.48-3291A>G (MFF-DT) | ||
| XM_005246276.2:c.4510T>C (COL4A3) | XP_005246333.1:p.Phe1504Leu | |
| XM_005246277.2:c.4405T>C (COL4A3) | XP_005246334.1:p.Phe1469Leu | |
| XM_011510555.1:c.4510T>C (COL4A3) | XP_011508857.1:p.Phe1504Leu | |
| XM_011510556.1:c.3271T>C (COL4A3) | XP_011508858.1:p.Phe1091Leu | |
| XR_241280.2:n.4601-258T>C (COL4A3) | ||
| XM_005246277.3:c.4405T>C (COL4A3) | XP_005246334.1:p.Phe1469Leu | |
| XM_011510556.2:c.3271T>C (COL4A3) | XP_011508858.1:p.Phe1091Leu | |
| XR_241280.3:n.4601-258T>C (COL4A3) | ||
| NM_000091.5:c.4510T>C (COL4A3) MANE Select | NP_000082.2:p.Phe1504Leu |