Linked Data
ClinVar Variation Id:
397613
dbSNP Id:
rs773905198
ExAC:
2:228175618 T / G
gnomAD v2:
2-228175618-T-G
gnomAD v4:
2-227310902-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227310902T>G , CM000664.2:g.227310902T>G | GRCh38 |
| NC_000002.11:g.228175618T>G , CM000664.1:g.228175618T>G | GRCh37 |
| NC_000002.10:g.227883862T>G | NCBI36 |
| NG_011591.1:g.151338T>G , LRG_230:g.151338T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.2140T>G (COL4A3) | ||
| ENST00000682257.1:n.151-884T>G (COL4A3) | ||
| ENST00000682970.1:n.180T>G (COL4A3) | ||
| ENST00000683077.1:n.1821T>G (COL4A3) | ||
| ENST00000684413.1:n.2449T>G (COL4A3) | ||
| ENST00000684724.1:n.303T>G (COL4A3) | ||
| ENST00000396578.8:c.4882T>G (COL4A3) MANE Select | ENSP00000379823.3:p.Ser1628Ala | |
| ENST00000469504.2:c.675T>G (COL4A3) | ENSP00000493493.1:n.675T>G | |
| ENST00000643388.1:c.442-884T>G (COL4A3) | ENSP00000495177.1:n.442-884T>G | |
| ENST00000396578.7:c.4882T>G (COL4A3) | ENSP00000379823.3:p.Ser1628Ala | |
| ENST00000469504.1:n.390T>G (COL4A3) | ||
| NM_000091.4:c.4882T>G , LRG_230t1:c.4882T>G (COL4A3) | NP_000082.2:p.Ser1628Ala | |
| NR_102371.1:n.48-5247A>C (MFF-DT) | ||
| XM_005246276.2:c.4756-884T>G (COL4A3) | XP_005246333.1:n.4756-884T>G | |
| XM_005246277.2:c.4777T>G (COL4A3) | XP_005246334.1:p.Ser1593Ala | |
| XM_011510555.1:c.*39T>G (COL4A3) | XP_011508857.1:n.*39T>G | |
| XM_011510556.1:c.3643T>G (COL4A3) | XP_011508858.1:p.Ser1215Ala | |
| XR_241280.2:n.4842T>G (COL4A3) | ||
| XM_005246277.3:c.4777T>G (COL4A3) | XP_005246334.1:p.Ser1593Ala | |
| XM_011510556.2:c.3643T>G (COL4A3) | XP_011508858.1:p.Ser1215Ala | |
| XR_241280.3:n.4842T>G (COL4A3) | ||
| NM_000091.5:c.4882T>G (COL4A3) MANE Select | NP_000082.2:p.Ser1628Ala |