Linked Data
ClinVar Variation Id:
255002
dbSNP Id:
rs183218622
ExAC:
2:228175629 C / T
gnomAD v2:
2-228175629-C-T
gnomAD v3:
2-227310913-C-T
gnomAD v4:
2-227310913-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227310913C>T , CM000664.2:g.227310913C>T | GRCh38 |
| NC_000002.11:g.228175629C>T , CM000664.1:g.228175629C>T | GRCh37 |
| NC_000002.10:g.227883873C>T | NCBI36 |
| NG_011591.1:g.151349C>T , LRG_230:g.151349C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.2151C>T (COL4A3) | ||
| ENST00000682257.1:n.151-873C>T (COL4A3) | ||
| ENST00000682970.1:n.191C>T (COL4A3) | ||
| ENST00000683077.1:n.1832C>T (COL4A3) | ||
| ENST00000684413.1:n.2460C>T (COL4A3) | ||
| ENST00000684724.1:n.314C>T (COL4A3) | ||
| ENST00000396578.8:c.4893C>T (COL4A3) MANE Select | ENSP00000379823.3:p.Phe1631= | |
| ENST00000469504.2:c.686C>T (COL4A3) | ENSP00000493493.1:n.686C>T | |
| ENST00000643388.1:c.442-873C>T (COL4A3) | ENSP00000495177.1:n.442-873C>T | |
| ENST00000396578.7:c.4893C>T (COL4A3) | ENSP00000379823.3:p.Phe1631= | |
| ENST00000469504.1:n.401C>T (COL4A3) | ||
| NM_000091.4:c.4893C>T , LRG_230t1:c.4893C>T (COL4A3) | NP_000082.2:p.Phe1631= | |
| NR_102371.1:n.48-5258G>A (MFF-DT) | ||
| XM_005246276.2:c.4756-873C>T (COL4A3) | XP_005246333.1:n.4756-873C>T | |
| XM_005246277.2:c.4788C>T (COL4A3) | XP_005246334.1:p.Phe1596= | |
| XM_011510555.1:c.*50C>T (COL4A3) | XP_011508857.1:n.*50C>T | |
| XM_011510556.1:c.3654C>T (COL4A3) | XP_011508858.1:p.Phe1218= | |
| XR_241280.2:n.4853C>T (COL4A3) | ||
| XM_005246277.3:c.4788C>T (COL4A3) | XP_005246334.1:p.Phe1596= | |
| XM_011510556.2:c.3654C>T (COL4A3) | XP_011508858.1:p.Phe1218= | |
| XR_241280.3:n.4853C>T (COL4A3) | ||
| NM_000091.5:c.4893C>T (COL4A3) MANE Select | NP_000082.2:p.Phe1631= |