Linked Data
ClinVar Variation Id:
522454
dbSNP Id:
rs55849096
ExAC:
2:228155592 C / G
gnomAD v2:
2-228155592-C-G
gnomAD v3:
2-227290876-C-G
gnomAD v4:
2-227290876-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227290876C>G , CM000664.2:g.227290876C>G | GRCh38 |
| NC_000002.11:g.228155592C>G , CM000664.1:g.228155592C>G | GRCh37 |
| NC_000002.10:g.227863836C>G | NCBI36 |
| NG_011591.1:g.131312C>G , LRG_230:g.131312C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.3200C>G (COL4A3) MANE Select | ENSP00000379823.3:p.Pro1067Arg | |
| ENST00000304990.8:c.311C>G (COL4A3) | ENSP00000302781.8:p.Pro104Arg | |
| ENST00000396578.7:c.3200C>G (COL4A3) | ENSP00000379823.3:p.Pro1067Arg | |
| ENST00000487633.1:n.361C>G (COL4A3) | ||
| NM_000091.4:c.3200C>G , LRG_230t1:c.3200C>G (COL4A3) | NP_000082.2:p.Pro1067Arg | |
| NR_102371.1:n.244-9087G>C (MFF-DT) | ||
| XM_005246276.2:c.3200C>G (COL4A3) | XP_005246333.1:p.Pro1067Arg | |
| XM_005246277.2:c.3095C>G (COL4A3) | XP_005246334.1:p.Pro1032Arg | |
| XM_005246280.2:c.3133+67C>G (COL4A3) | XP_005246337.1:n.3133+67C>G | |
| XM_006712245.2:c.3200C>G (COL4A3) | XP_006712308.1:p.Pro1067Arg | |
| XM_011510555.1:c.3200C>G (COL4A3) | XP_011508857.1:p.Pro1067Arg | |
| XM_011510556.1:c.1961C>G (COL4A3) | XP_011508858.1:p.Pro654Arg | |
| XR_241280.2:n.3338C>G (COL4A3) | ||
| XM_005246277.3:c.3095C>G (COL4A3) | XP_005246334.1:p.Pro1032Arg | |
| XM_005246280.3:c.3133+67C>G (COL4A3) | XP_005246337.1:n.3133+67C>G | |
| XM_006712245.3:c.3200C>G (COL4A3) | XP_006712308.1:p.Pro1067Arg | |
| XM_011510556.2:c.1961C>G (COL4A3) | XP_011508858.1:p.Pro654Arg | |
| XM_017003295.1:c.3200C>G (COL4A3) | XP_016858784.1:p.Pro1067Arg | |
| XR_001738601.1:n.3338C>G (COL4A3) | ||
| XR_241280.3:n.3338C>G (COL4A3) | ||
| NM_000091.5:c.3200C>G (COL4A3) MANE Select | NP_000082.2:p.Pro1067Arg |