Linked Data
ClinVar Variation Id:
447174
dbSNP Id:
rs756231749
ExAC:
2:228175561 C / T
gnomAD v2:
2-228175561-C-T
gnomAD v3:
2-227310845-C-T
gnomAD v4:
2-227310845-C-T
COSMIC:
COSM4439428
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227310845C>T , CM000664.2:g.227310845C>T | GRCh38 |
| NC_000002.11:g.228175561C>T , CM000664.1:g.228175561C>T | GRCh37 |
| NC_000002.10:g.227883805C>T | NCBI36 |
| NG_011591.1:g.151281C>T , LRG_230:g.151281C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.2083C>T (COL4A3) | ||
| ENST00000682257.1:n.151-941C>T (COL4A3) | ||
| ENST00000682970.1:n.123C>T (COL4A3) | ||
| ENST00000683077.1:n.1764C>T (COL4A3) | ||
| ENST00000684413.1:n.2392C>T (COL4A3) | ||
| ENST00000684724.1:n.246C>T (COL4A3) | ||
| ENST00000396578.8:c.4825C>T (COL4A3) MANE Select | ENSP00000379823.3:p.Arg1609Ter | |
| ENST00000469504.2:c.618C>T (COL4A3) | ENSP00000493493.1:n.618C>T | |
| ENST00000643388.1:c.442-941C>T (COL4A3) | ENSP00000495177.1:n.442-941C>T | |
| ENST00000396578.7:c.4825C>T (COL4A3) | ENSP00000379823.3:p.Arg1609Ter | |
| ENST00000469504.1:n.333C>T (COL4A3) | ||
| NM_000091.4:c.4825C>T , LRG_230t1:c.4825C>T (COL4A3) | NP_000082.2:p.Arg1609Ter | |
| NR_102371.1:n.48-5190G>A (MFF-DT) | ||
| XM_005246276.2:c.4756-941C>T (COL4A3) | XP_005246333.1:n.4756-941C>T | |
| XM_005246277.2:c.4720C>T (COL4A3) | XP_005246334.1:p.Arg1574Ter | |
| XM_011510555.1:c.4812C>T (COL4A3) | XP_011508857.1:p.Ser1604= | |
| XM_011510556.1:c.3586C>T (COL4A3) | XP_011508858.1:p.Arg1196Ter | |
| XR_241280.2:n.4785C>T (COL4A3) | ||
| XM_005246277.3:c.4720C>T (COL4A3) | XP_005246334.1:p.Arg1574Ter | |
| XM_011510556.2:c.3586C>T (COL4A3) | XP_011508858.1:p.Arg1196Ter | |
| XR_241280.3:n.4785C>T (COL4A3) | ||
| NM_000091.5:c.4825C>T (COL4A3) MANE Select | NP_000082.2:p.Arg1609Ter |