Linked Data
ClinVar Variation Id:
334770
ClinVar RCV Id:
RCV002057673
dbSNP Id:
rs377003650
ExAC:
2:228155588 C / T
gnomAD v2:
2-228155588-C-T
gnomAD v3:
2-227290872-C-T
gnomAD v4:
2-227290872-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227290872C>T , CM000664.2:g.227290872C>T | GRCh38 |
| NC_000002.11:g.228155588C>T , CM000664.1:g.228155588C>T | GRCh37 |
| NC_000002.10:g.227863832C>T | NCBI36 |
| NG_011591.1:g.131308C>T , LRG_230:g.131308C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396578.8:c.3196C>T (COL4A3) MANE Select | ENSP00000379823.3:p.Pro1066Ser | |
| ENST00000304990.8:c.307C>T (COL4A3) | ENSP00000302781.8:p.Pro103Ser | |
| ENST00000396578.7:c.3196C>T (COL4A3) | ENSP00000379823.3:p.Pro1066Ser | |
| ENST00000487633.1:n.357C>T (COL4A3) | ||
| NM_000091.4:c.3196C>T , LRG_230t1:c.3196C>T (COL4A3) | NP_000082.2:p.Pro1066Ser | |
| NR_102371.1:n.244-9083G>A (MFF-DT) | ||
| XM_005246276.2:c.3196C>T (COL4A3) | XP_005246333.1:p.Pro1066Ser | |
| XM_005246277.2:c.3091C>T (COL4A3) | XP_005246334.1:p.Pro1031Ser | |
| XM_005246280.2:c.3133+63C>T (COL4A3) | XP_005246337.1:n.3133+63C>T | |
| XM_006712245.2:c.3196C>T (COL4A3) | XP_006712308.1:p.Pro1066Ser | |
| XM_011510555.1:c.3196C>T (COL4A3) | XP_011508857.1:p.Pro1066Ser | |
| XM_011510556.1:c.1957C>T (COL4A3) | XP_011508858.1:p.Pro653Ser | |
| XR_241280.2:n.3334C>T (COL4A3) | ||
| XM_005246277.3:c.3091C>T (COL4A3) | XP_005246334.1:p.Pro1031Ser | |
| XM_005246280.3:c.3133+63C>T (COL4A3) | XP_005246337.1:n.3133+63C>T | |
| XM_006712245.3:c.3196C>T (COL4A3) | XP_006712308.1:p.Pro1066Ser | |
| XM_011510556.2:c.1957C>T (COL4A3) | XP_011508858.1:p.Pro653Ser | |
| XM_017003295.1:c.3196C>T (COL4A3) | XP_016858784.1:p.Pro1066Ser | |
| XR_001738601.1:n.3334C>T (COL4A3) | ||
| XR_241280.3:n.3334C>T (COL4A3) | ||
| NM_000091.5:c.3196C>T (COL4A3) MANE Select | NP_000082.2:p.Pro1066Ser |