Linked Data
ClinVar Variation Id:
334785
dbSNP Id:
rs200454769
ExAC:
2:228173646 C / G
gnomAD v2:
2-228173646-C-G
gnomAD v3:
2-227308930-C-G
gnomAD v4:
2-227308930-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227308930C>G , CM000664.2:g.227308930C>G | GRCh38 |
| NC_000002.11:g.228173646C>G , CM000664.1:g.228173646C>G | GRCh37 |
| NC_000002.10:g.227881890C>G | NCBI36 |
| NG_011591.1:g.149366C>G , LRG_230:g.149366C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.1752C>G (COL4A3) | ||
| ENST00000684413.1:n.1934C>G (COL4A3) | ||
| ENST00000396578.8:c.4494C>G (COL4A3) MANE Select | ENSP00000379823.3:p.Thr1498= | |
| ENST00000469504.2:c.434-274C>G (COL4A3) | ENSP00000493493.1:n.434-274C>G | |
| ENST00000643388.1:c.180C>G (COL4A3) | ENSP00000495177.1:p.Thr60= | |
| ENST00000396578.7:c.4494C>G (COL4A3) | ENSP00000379823.3:p.Thr1498= | |
| ENST00000469504.1:n.149-274C>G (COL4A3) | ||
| NM_000091.4:c.4494C>G , LRG_230t1:c.4494C>G (COL4A3) | NP_000082.2:p.Thr1498= | |
| NR_102371.1:n.48-3275G>C (MFF-DT) | ||
| XM_005246276.2:c.4494C>G (COL4A3) | XP_005246333.1:p.Thr1498= | |
| XM_005246277.2:c.4389C>G (COL4A3) | XP_005246334.1:p.Thr1463= | |
| XM_011510555.1:c.4494C>G (COL4A3) | XP_011508857.1:p.Thr1498= | |
| XM_011510556.1:c.3255C>G (COL4A3) | XP_011508858.1:p.Thr1085= | |
| XR_241280.2:n.4601-274C>G (COL4A3) | ||
| XM_005246277.3:c.4389C>G (COL4A3) | XP_005246334.1:p.Thr1463= | |
| XM_011510556.2:c.3255C>G (COL4A3) | XP_011508858.1:p.Thr1085= | |
| XR_241280.3:n.4601-274C>G (COL4A3) | ||
| NM_000091.5:c.4494C>G (COL4A3) MANE Select | NP_000082.2:p.Thr1498= |