Linked Data
ClinVar Variation Id:
397514
dbSNP Id:
rs1060499654
gnomAD v2:
2-228145303-C-T
gnomAD v3:
2-227280587-C-T
gnomAD v4:
2-227280587-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227280587C>T , CM000664.2:g.227280587C>T | GRCh38 |
| NC_000002.11:g.228145303C>T , CM000664.1:g.228145303C>T | GRCh37 |
| NC_000002.10:g.227853547C>T | NCBI36 |
| NG_011591.1:g.121023C>T , LRG_230:g.121023C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.2371C>T (COL4A3) MANE Select | ENSP00000379823.3:p.Arg791Ter | |
| ENST00000396578.7:c.2371C>T (COL4A3) | ENSP00000379823.3:p.Arg791Ter | |
| NM_000091.4:c.2371C>T , LRG_230t1:c.2371C>T (COL4A3) | NP_000082.2:p.Arg791Ter | |
| NR_102371.1:n.330-1012G>A (MFF-DT) | ||
| XM_005246276.2:c.2371C>T (COL4A3) | XP_005246333.1:p.Arg791Ter | |
| XM_005246277.2:c.2266C>T (COL4A3) | XP_005246334.1:p.Arg756Ter | |
| XM_005246280.2:c.2371C>T (COL4A3) | XP_005246337.1:p.Arg791Ter | |
| XM_006712245.2:c.2371C>T (COL4A3) | XP_006712308.1:p.Arg791Ter | |
| XM_011510555.1:c.2371C>T (COL4A3) | XP_011508857.1:p.Arg791Ter | |
| XM_011510556.1:c.1132C>T (COL4A3) | XP_011508858.1:p.Arg378Ter | |
| XR_241280.2:n.2509C>T (COL4A3) | ||
| XM_005246277.3:c.2266C>T (COL4A3) | XP_005246334.1:p.Arg756Ter | |
| XM_005246280.3:c.2371C>T (COL4A3) | XP_005246337.1:p.Arg791Ter | |
| XM_006712245.3:c.2371C>T (COL4A3) | XP_006712308.1:p.Arg791Ter | |
| XM_011510556.2:c.1132C>T (COL4A3) | XP_011508858.1:p.Arg378Ter | |
| XM_017003295.1:c.2371C>T (COL4A3) | XP_016858784.1:p.Arg791Ter | |
| XR_001738601.1:n.2509C>T (COL4A3) | ||
| XR_241280.3:n.2509C>T (COL4A3) | ||
| NM_000091.5:c.2371C>T (COL4A3) MANE Select | NP_000082.2:p.Arg791Ter |