Linked Data
ClinVar Variation Id:
2151964
ClinVar RCV Id:
RCV003061542
dbSNP Id:
rs776086781
ExAC:
2:228173639 G / A
gnomAD v2:
2-228173639-G-A
gnomAD v3:
2-227308923-G-A
gnomAD v4:
2-227308923-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227308923G>A , CM000664.2:g.227308923G>A | GRCh38 |
| NC_000002.11:g.228173639G>A , CM000664.1:g.228173639G>A | GRCh37 |
| NC_000002.10:g.227881883G>A | NCBI36 |
| NG_011591.1:g.149359G>A , LRG_230:g.149359G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.1745G>A (COL4A3) | ||
| ENST00000684413.1:n.1927G>A (COL4A3) | ||
| ENST00000396578.8:c.4487G>A (COL4A3) MANE Select | ENSP00000379823.3:p.Arg1496Gln | |
| ENST00000469504.2:c.434-281G>A (COL4A3) | ENSP00000493493.1:n.434-281G>A | |
| ENST00000643388.1:c.173G>A (COL4A3) | ENSP00000495177.1:p.Arg58Gln | |
| ENST00000396578.7:c.4487G>A (COL4A3) | ENSP00000379823.3:p.Arg1496Gln | |
| ENST00000469504.1:n.149-281G>A (COL4A3) | ||
| NM_000091.4:c.4487G>A , LRG_230t1:c.4487G>A (COL4A3) | NP_000082.2:p.Arg1496Gln | |
| NR_102371.1:n.48-3268C>T (MFF-DT) | ||
| XM_005246276.2:c.4487G>A (COL4A3) | XP_005246333.1:p.Arg1496Gln | |
| XM_005246277.2:c.4382G>A (COL4A3) | XP_005246334.1:p.Arg1461Gln | |
| XM_011510555.1:c.4487G>A (COL4A3) | XP_011508857.1:p.Arg1496Gln | |
| XM_011510556.1:c.3248G>A (COL4A3) | XP_011508858.1:p.Arg1083Gln | |
| XR_241280.2:n.4601-281G>A (COL4A3) | ||
| XM_005246277.3:c.4382G>A (COL4A3) | XP_005246334.1:p.Arg1461Gln | |
| XM_011510556.2:c.3248G>A (COL4A3) | XP_011508858.1:p.Arg1083Gln | |
| XR_241280.3:n.4601-281G>A (COL4A3) | ||
| NM_000091.5:c.4487G>A (COL4A3) MANE Select | NP_000082.2:p.Arg1496Gln |