Linked Data
ClinVar Variation Id:
334784
dbSNP Id:
rs181952966
ExAC:
2:228173634 G / A
gnomAD v2:
2-228173634-G-A
gnomAD v3:
2-227308918-G-A
gnomAD v4:
2-227308918-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227308918G>A , CM000664.2:g.227308918G>A | GRCh38 |
| NC_000002.11:g.228173634G>A , CM000664.1:g.228173634G>A | GRCh37 |
| NC_000002.10:g.227881878G>A | NCBI36 |
| NG_011591.1:g.149354G>A , LRG_230:g.149354G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.1740G>A (COL4A3) | ||
| ENST00000684413.1:n.1922G>A (COL4A3) | ||
| ENST00000396578.8:c.4482G>A (COL4A3) MANE Select | ENSP00000379823.3:p.Leu1494= | |
| ENST00000469504.2:c.434-286G>A (COL4A3) | ENSP00000493493.1:n.434-286G>A | |
| ENST00000643388.1:c.168G>A (COL4A3) | ENSP00000495177.1:p.Leu56= | |
| ENST00000396578.7:c.4482G>A (COL4A3) | ENSP00000379823.3:p.Leu1494= | |
| ENST00000469504.1:n.149-286G>A (COL4A3) | ||
| NM_000091.4:c.4482G>A , LRG_230t1:c.4482G>A (COL4A3) | NP_000082.2:p.Leu1494= | |
| NR_102371.1:n.48-3263C>T (MFF-DT) | ||
| XM_005246276.2:c.4482G>A (COL4A3) | XP_005246333.1:p.Leu1494= | |
| XM_005246277.2:c.4377G>A (COL4A3) | XP_005246334.1:p.Leu1459= | |
| XM_011510555.1:c.4482G>A (COL4A3) | XP_011508857.1:p.Leu1494= | |
| XM_011510556.1:c.3243G>A (COL4A3) | XP_011508858.1:p.Leu1081= | |
| XR_241280.2:n.4601-286G>A (COL4A3) | ||
| XM_005246277.3:c.4377G>A (COL4A3) | XP_005246334.1:p.Leu1459= | |
| XM_011510556.2:c.3243G>A (COL4A3) | XP_011508858.1:p.Leu1081= | |
| XR_241280.3:n.4601-286G>A (COL4A3) | ||
| NM_000091.5:c.4482G>A (COL4A3) MANE Select | NP_000082.2:p.Leu1494= |