Linked Data
ClinVar Variation Id:
334783
dbSNP Id:
rs747386514
ExAC:
2:228172412 T / C
gnomAD v2:
2-228172412-T-C
gnomAD v3:
2-227307696-T-C
gnomAD v4:
2-227307696-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227307696T>C , CM000664.2:g.227307696T>C | GRCh38 |
| NC_000002.11:g.228172412T>C , CM000664.1:g.228172412T>C | GRCh37 |
| NC_000002.10:g.227880656T>C | NCBI36 |
| NG_011591.1:g.148132T>C , LRG_230:g.148132T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.1511-14T>C (COL4A3) | ||
| ENST00000684413.1:n.720-20T>C (COL4A3) | ||
| ENST00000396578.8:c.4253-14T>C (COL4A3) MANE Select | ENSP00000379823.3:n.4253-14T>C | |
| ENST00000469504.2:c.224-14T>C (COL4A3) | ENSP00000493493.1:n.224-14T>C | |
| ENST00000396578.7:c.4253-14T>C (COL4A3) | ENSP00000379823.3:n.4253-14T>C | |
| NM_000091.4:c.4253-14T>C , LRG_230t1:c.4253-14T>C (COL4A3) | NP_000082.2:n.4253-14T>C | |
| NR_102371.1:n.48-2041A>G (MFF-DT) | ||
| XM_005246276.2:c.4253-14T>C (COL4A3) | XP_005246333.1:n.4253-14T>C | |
| XM_005246277.2:c.4148-14T>C (COL4A3) | XP_005246334.1:n.4148-14T>C | |
| XM_011510555.1:c.4253-14T>C (COL4A3) | XP_011508857.1:n.4253-14T>C | |
| XM_011510556.1:c.3014-14T>C (COL4A3) | XP_011508858.1:n.3014-14T>C | |
| XR_241280.2:n.4391-14T>C (COL4A3) | ||
| XM_005246277.3:c.4148-14T>C (COL4A3) | XP_005246334.1:n.4148-14T>C | |
| XM_011510556.2:c.3014-14T>C (COL4A3) | XP_011508858.1:n.3014-14T>C | |
| XR_241280.3:n.4391-14T>C (COL4A3) | ||
| NM_000091.5:c.4253-14T>C (COL4A3) MANE Select | NP_000082.2:n.4253-14T>C |