Linked Data
ClinVar Variation Id:
501254
dbSNP Id:
rs200509072
ExAC:
2:228172468 G / A
gnomAD v2:
2-228172468-G-A
gnomAD v3:
2-227307752-G-A
gnomAD v4:
2-227307752-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227307752G>A , CM000664.2:g.227307752G>A | GRCh38 |
| NC_000002.11:g.228172468G>A , CM000664.1:g.228172468G>A | GRCh37 |
| NC_000002.10:g.227880712G>A | NCBI36 |
| NG_011591.1:g.148188G>A , LRG_230:g.148188G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000471862.2:n.1553G>A (COL4A3) | ||
| ENST00000684413.1:n.756G>A (COL4A3) | ||
| ENST00000396578.8:c.4295G>A (COL4A3) MANE Select | ENSP00000379823.3:p.Arg1432His | |
| ENST00000469504.2:c.266G>A (COL4A3) | ENSP00000493493.1:p.Arg89His | |
| ENST00000396578.7:c.4295G>A (COL4A3) | ENSP00000379823.3:p.Arg1432His | |
| NM_000091.4:c.4295G>A , LRG_230t1:c.4295G>A (COL4A3) | NP_000082.2:p.Arg1432His | |
| NR_102371.1:n.48-2097C>T (MFF-DT) | ||
| XM_005246276.2:c.4295G>A (COL4A3) | XP_005246333.1:p.Arg1432His | |
| XM_005246277.2:c.4190G>A (COL4A3) | XP_005246334.1:p.Arg1397His | |
| XM_011510555.1:c.4295G>A (COL4A3) | XP_011508857.1:p.Arg1432His | |
| XM_011510556.1:c.3056G>A (COL4A3) | XP_011508858.1:p.Arg1019His | |
| XR_241280.2:n.4433G>A (COL4A3) | ||
| XM_005246277.3:c.4190G>A (COL4A3) | XP_005246334.1:p.Arg1397His | |
| XM_011510556.2:c.3056G>A (COL4A3) | XP_011508858.1:p.Arg1019His | |
| XR_241280.3:n.4433G>A (COL4A3) | ||
| NM_000091.5:c.4295G>A (COL4A3) MANE Select | NP_000082.2:p.Arg1432His |