Linked Data
ClinVar Variation Id:
224787
ClinVar RCV Id:
RCV000416721
dbSNP Id:
rs760462252
ExAC:
2:228172555 C / T
gnomAD v2:
2-228172555-C-T
gnomAD v3:
2-227307839-C-T
gnomAD v4:
2-227307839-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227307839C>T , CM000664.2:g.227307839C>T | GRCh38 |
| NC_000002.11:g.228172555C>T , CM000664.1:g.228172555C>T | GRCh37 |
| NC_000002.10:g.227880799C>T | NCBI36 |
| NG_011591.1:g.148275C>T , LRG_230:g.148275C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.1640C>T (COL4A3) | ||
| ENST00000684413.1:n.843C>T (COL4A3) | ||
| ENST00000396578.8:c.4382C>T (COL4A3) MANE Select | ENSP00000379823.3:p.Pro1461Leu | |
| ENST00000469504.2:c.353C>T (COL4A3) | ENSP00000493493.1:p.Pro118Leu | |
| ENST00000643388.1:c.68C>T (COL4A3) | ENSP00000495177.1:p.Pro23Leu | |
| ENST00000396578.7:c.4382C>T (COL4A3) | ENSP00000379823.3:p.Pro1461Leu | |
| ENST00000469504.1:n.68C>T (COL4A3) | ||
| NM_000091.4:c.4382C>T , LRG_230t1:c.4382C>T (COL4A3) | NP_000082.2:p.Pro1461Leu | |
| NR_102371.1:n.48-2184G>A (MFF-DT) | ||
| XM_005246276.2:c.4382C>T (COL4A3) | XP_005246333.1:p.Pro1461Leu | |
| XM_005246277.2:c.4277C>T (COL4A3) | XP_005246334.1:p.Pro1426Leu | |
| XM_011510555.1:c.4382C>T (COL4A3) | XP_011508857.1:p.Pro1461Leu | |
| XM_011510556.1:c.3143C>T (COL4A3) | XP_011508858.1:p.Pro1048Leu | |
| XR_241280.2:n.4520C>T (COL4A3) | ||
| XM_005246277.3:c.4277C>T (COL4A3) | XP_005246334.1:p.Pro1426Leu | |
| XM_011510556.2:c.3143C>T (COL4A3) | XP_011508858.1:p.Pro1048Leu | |
| XR_241280.3:n.4520C>T (COL4A3) | ||
| NM_000091.5:c.4382C>T (COL4A3) MANE Select | NP_000082.2:p.Pro1461Leu |