Linked Data
ClinVar Variation Id:
438698
ClinVar RCV Id:
RCV000505590
dbSNP Id:
rs748901402
ExAC:
2:228168638 G / A
gnomAD v2:
2-228168638-G-A
gnomAD v4:
2-227303922-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227303922G>A , CM000664.2:g.227303922G>A | GRCh38 |
| NC_000002.11:g.228168638G>A , CM000664.1:g.228168638G>A | GRCh37 |
| NC_000002.10:g.227876882G>A | NCBI36 |
| NG_011591.1:g.144358G>A , LRG_230:g.144358G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.437G>A (COL4A3) | ||
| ENST00000396578.8:c.4019G>A (COL4A3) MANE Select | ENSP00000379823.3:p.Gly1340Glu | |
| ENST00000396578.7:c.4019G>A (COL4A3) | ENSP00000379823.3:p.Gly1340Glu | |
| ENST00000471862.1:n.437G>A (COL4A3) | ||
| NM_000091.4:c.4019G>A , LRG_230t1:c.4019G>A (COL4A3) | NP_000082.2:p.Gly1340Glu | |
| NR_102371.1:n.243+1538C>T (MFF-DT) | ||
| XM_005246276.2:c.4019G>A (COL4A3) | XP_005246333.1:p.Gly1340Glu | |
| XM_005246277.2:c.3914G>A (COL4A3) | XP_005246334.1:p.Gly1305Glu | |
| XM_011510555.1:c.4019G>A (COL4A3) | XP_011508857.1:p.Gly1340Glu | |
| XM_011510556.1:c.2780G>A (COL4A3) | XP_011508858.1:p.Gly927Glu | |
| XR_241280.2:n.4157G>A (COL4A3) | ||
| XM_005246277.3:c.3914G>A (COL4A3) | XP_005246334.1:p.Gly1305Glu | |
| XM_011510556.2:c.2780G>A (COL4A3) | XP_011508858.1:p.Gly927Glu | |
| XR_241280.3:n.4157G>A (COL4A3) | ||
| NM_000091.5:c.4019G>A (COL4A3) MANE Select | NP_000082.2:p.Gly1340Glu |