Linked Data
ClinVar Variation Id:
17484
dbSNP Id:
rs121912824
ExAC:
2:228172614 C / T
gnomAD v2:
2-228172614-C-T
gnomAD v3:
2-227307898-C-T
gnomAD v4:
2-227307898-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227307898C>T , CM000664.2:g.227307898C>T | GRCh38 |
| NC_000002.11:g.228172614C>T , CM000664.1:g.228172614C>T | GRCh37 |
| NC_000002.10:g.227880858C>T | NCBI36 |
| NG_011591.1:g.148334C>T , LRG_230:g.148334C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.1699C>T (COL4A3) | ||
| ENST00000684413.1:n.902C>T (COL4A3) | ||
| ENST00000396578.8:c.4441C>T (COL4A3) MANE Select | ENSP00000379823.3:p.Arg1481Ter | |
| ENST00000469504.2:c.412C>T (COL4A3) | ENSP00000493493.1:p.Arg138Ter | |
| ENST00000643388.1:c.127C>T (COL4A3) | ENSP00000495177.1:p.Arg43Ter | |
| ENST00000396578.7:c.4441C>T (COL4A3) | ENSP00000379823.3:p.Arg1481Ter | |
| ENST00000469504.1:n.127C>T (COL4A3) | ||
| NM_000091.4:c.4441C>T , LRG_230t1:c.4441C>T (COL4A3) | NP_000082.2:p.Arg1481Ter | |
| NR_102371.1:n.48-2243G>A (MFF-DT) | ||
| XM_005246276.2:c.4441C>T (COL4A3) | XP_005246333.1:p.Arg1481Ter | |
| XM_005246277.2:c.4336C>T (COL4A3) | XP_005246334.1:p.Arg1446Ter | |
| XM_011510555.1:c.4441C>T (COL4A3) | XP_011508857.1:p.Arg1481Ter | |
| XM_011510556.1:c.3202C>T (COL4A3) | XP_011508858.1:p.Arg1068Ter | |
| XR_241280.2:n.4579C>T (COL4A3) | ||
| XM_005246277.3:c.4336C>T (COL4A3) | XP_005246334.1:p.Arg1446Ter | |
| XM_011510556.2:c.3202C>T (COL4A3) | XP_011508858.1:p.Arg1068Ter | |
| XR_241280.3:n.4579C>T (COL4A3) | ||
| NM_000091.5:c.4441C>T (COL4A3) MANE Select | NP_000082.2:p.Arg1481Ter |