Linked Data
ClinVar Variation Id:
334758
dbSNP Id:
rs748843785
ExAC:
2:228118269 G / T
gnomAD v2:
2-228118269-G-T
gnomAD v3:
2-227253553-G-T
gnomAD v4:
2-227253553-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227253553G>T , CM000664.2:g.227253553G>T | GRCh38 |
| NC_000002.11:g.228118269G>T , CM000664.1:g.228118269G>T | GRCh37 |
| NC_000002.10:g.227826513G>T | NCBI36 |
| NG_011591.1:g.93989G>T , LRG_230:g.93989G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.688-8G>T (COL4A3) MANE Select | ENSP00000379823.3:n.688-8G>T | |
| ENST00000396578.7:c.688-8G>T (COL4A3) | ENSP00000379823.3:n.688-8G>T | |
| NM_000091.4:c.688-8G>T , LRG_230t1:c.688-8G>T (COL4A3) | NP_000082.2:n.688-8G>T | |
| NR_102371.1:n.1592+5625C>A (MFF-DT) | ||
| XM_005246276.2:c.688-8G>T (COL4A3) | XP_005246333.1:n.688-8G>T | |
| XM_005246277.2:c.688-8G>T (COL4A3) | XP_005246334.1:n.688-8G>T | |
| XM_005246280.2:c.688-8G>T (COL4A3) | XP_005246337.1:n.688-8G>T | |
| XM_006712245.2:c.688-8G>T (COL4A3) | XP_006712308.1:n.688-8G>T | |
| XM_011510555.1:c.688-8G>T (COL4A3) | XP_011508857.1:n.688-8G>T | |
| XR_241280.2:n.826-8G>T (COL4A3) | ||
| XM_005246277.3:c.688-8G>T (COL4A3) | XP_005246334.1:n.688-8G>T | |
| XM_005246280.3:c.688-8G>T (COL4A3) | XP_005246337.1:n.688-8G>T | |
| XM_006712245.3:c.688-8G>T (COL4A3) | XP_006712308.1:n.688-8G>T | |
| XM_017003295.1:c.688-8G>T (COL4A3) | XP_016858784.1:n.688-8G>T | |
| XR_001738601.1:n.826-8G>T (COL4A3) | ||
| XR_241280.3:n.826-8G>T (COL4A3) | ||
| NM_000091.5:c.688-8G>T (COL4A3) MANE Select | NP_000082.2:n.688-8G>T |