Linked Data
ClinVar Variation Id:
1044092
dbSNP Id:
rs369575989
ExAC:
2:228173943 C / T
gnomAD v2:
2-228173943-C-T
gnomAD v3:
2-227309227-C-T
gnomAD v4:
2-227309227-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227309227C>T , CM000664.2:g.227309227C>T | GRCh38 |
| NC_000002.11:g.228173943C>T , CM000664.1:g.228173943C>T | GRCh37 |
| NC_000002.10:g.227882187C>T | NCBI36 |
| NG_011591.1:g.149663C>T , LRG_230:g.149663C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.1922C>T (COL4A3) | ||
| ENST00000682257.1:n.59C>T (COL4A3) | ||
| ENST00000683077.1:n.146C>T (COL4A3) | ||
| ENST00000684413.1:n.2231C>T (COL4A3) | ||
| ENST00000684724.1:n.85C>T (COL4A3) | ||
| ENST00000396578.8:c.4664C>T (COL4A3) MANE Select | ENSP00000379823.3:p.Ala1555Val | |
| ENST00000469504.2:c.457C>T (COL4A3) | ENSP00000493493.1:p.Arg153Ter | |
| ENST00000643388.1:c.350C>T (COL4A3) | ENSP00000495177.1:p.Ala117Val | |
| ENST00000396578.7:c.4664C>T (COL4A3) | ENSP00000379823.3:p.Ala1555Val | |
| ENST00000469504.1:n.172C>T (COL4A3) | ||
| NM_000091.4:c.4664C>T , LRG_230t1:c.4664C>T (COL4A3) | NP_000082.2:p.Ala1555Val | |
| NR_102371.1:n.48-3572G>A (MFF-DT) | ||
| XM_005246276.2:c.4664C>T (COL4A3) | XP_005246333.1:p.Ala1555Val | |
| XM_005246277.2:c.4559C>T (COL4A3) | XP_005246334.1:p.Ala1520Val | |
| XM_011510555.1:c.4664C>T (COL4A3) | XP_011508857.1:p.Ala1555Val | |
| XM_011510556.1:c.3425C>T (COL4A3) | XP_011508858.1:p.Ala1142Val | |
| XR_241280.2:n.4624C>T (COL4A3) | ||
| XM_005246277.3:c.4559C>T (COL4A3) | XP_005246334.1:p.Ala1520Val | |
| XM_011510556.2:c.3425C>T (COL4A3) | XP_011508858.1:p.Ala1142Val | |
| XR_241280.3:n.4624C>T (COL4A3) | ||
| NM_000091.5:c.4664C>T (COL4A3) MANE Select | NP_000082.2:p.Ala1555Val |