Linked Data
ClinVar Variation Id:
334754
dbSNP Id:
rs373975901
ExAC:
2:228104935 C / T
gnomAD v2:
2-228104935-C-T
gnomAD v3:
2-227240219-C-T
gnomAD v4:
2-227240219-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227240219C>T , CM000664.2:g.227240219C>T | GRCh38 |
| NC_000002.11:g.228104935C>T , CM000664.1:g.228104935C>T | GRCh37 |
| NC_000002.10:g.227813179C>T | NCBI36 |
| NG_011591.1:g.80655C>T , LRG_230:g.80655C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.221C>T (COL4A3) MANE Select | ENSP00000379823.3:p.Pro74Leu | |
| ENST00000396578.7:c.221C>T (COL4A3) | ENSP00000379823.3:p.Pro74Leu | |
| NM_000091.4:c.221C>T , LRG_230t1:c.221C>T (COL4A3) | NP_000082.2:p.Pro74Leu | |
| NR_102371.1:n.1593-2045G>A (MFF-DT) | ||
| XM_005246276.2:c.221C>T (COL4A3) | XP_005246333.1:p.Pro74Leu | |
| XM_005246277.2:c.221C>T (COL4A3) | XP_005246334.1:p.Pro74Leu | |
| XM_005246280.2:c.221C>T (COL4A3) | XP_005246337.1:p.Pro74Leu | |
| XM_006712245.2:c.221C>T (COL4A3) | XP_006712308.1:p.Pro74Leu | |
| XM_011510555.1:c.221C>T (COL4A3) | XP_011508857.1:p.Pro74Leu | |
| XR_241280.2:n.359C>T (COL4A3) | ||
| XM_005246277.3:c.221C>T (COL4A3) | XP_005246334.1:p.Pro74Leu | |
| XM_005246280.3:c.221C>T (COL4A3) | XP_005246337.1:p.Pro74Leu | |
| XM_006712245.3:c.221C>T (COL4A3) | XP_006712308.1:p.Pro74Leu | |
| XM_017003295.1:c.221C>T (COL4A3) | XP_016858784.1:p.Pro74Leu | |
| XR_001738601.1:n.359C>T (COL4A3) | ||
| XR_241280.3:n.359C>T (COL4A3) | ||
| NM_000091.5:c.221C>T (COL4A3) MANE Select | NP_000082.2:p.Pro74Leu |