Linked Data
ClinVar Variation Id:
254991
dbSNP Id:
rs147085074
ExAC:
2:228157954 G / A
gnomAD v2:
2-228157954-G-A
gnomAD v3:
2-227293238-G-A
gnomAD v4:
2-227293238-G-A
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227293238G>A , CM000664.2:g.227293238G>A | GRCh38 |
| NC_000002.11:g.228157954G>A , CM000664.1:g.228157954G>A | GRCh37 |
| NC_000002.10:g.227866198G>A | NCBI36 |
| NG_011591.1:g.133674G>A , LRG_230:g.133674G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.3258G>A (COL4A3) MANE Select | ENSP00000379823.3:p.Gly1086= | |
| ENST00000304990.8:c.369G>A (COL4A3) | ENSP00000302781.8:p.Gly123= | |
| ENST00000396578.7:c.3258G>A (COL4A3) | ENSP00000379823.3:p.Gly1086= | |
| NM_000091.4:c.3258G>A , LRG_230t1:c.3258G>A (COL4A3) | NP_000082.2:p.Gly1086= | |
| NR_102371.1:n.244-11449C>T (MFF-DT) | ||
| XM_005246276.2:c.3258G>A (COL4A3) | XP_005246333.1:p.Gly1086= | |
| XM_005246277.2:c.3153G>A (COL4A3) | XP_005246334.1:p.Gly1051= | |
| XM_005246280.2:c.*25G>A (COL4A3) | XP_005246337.1:n.*25G>A | |
| XM_006712245.2:c.3258G>A (COL4A3) | XP_006712308.1:p.Gly1086= | |
| XM_011510555.1:c.3258G>A (COL4A3) | XP_011508857.1:p.Gly1086= | |
| XM_011510556.1:c.2019G>A (COL4A3) | XP_011508858.1:p.Gly673= | |
| XR_241280.2:n.3396G>A (COL4A3) | ||
| XM_005246277.3:c.3153G>A (COL4A3) | XP_005246334.1:p.Gly1051= | |
| XM_005246280.3:c.*25G>A (COL4A3) | XP_005246337.1:n.*25G>A | |
| XM_006712245.3:c.3258G>A (COL4A3) | XP_006712308.1:p.Gly1086= | |
| XM_011510556.2:c.2019G>A (COL4A3) | XP_011508858.1:p.Gly673= | |
| XM_017003295.1:c.3258G>A (COL4A3) | XP_016858784.1:p.Gly1086= | |
| XR_001738601.1:n.3396G>A (COL4A3) | ||
| XR_241280.3:n.3396G>A (COL4A3) | ||
| NM_000091.5:c.3258G>A (COL4A3) MANE Select | NP_000082.2:p.Gly1086= |