Linked Data
ClinVar Variation Id:
255000
dbSNP Id:
rs113401495
ExAC:
2:228173986 A / T
gnomAD v2:
2-228173986-A-T
gnomAD v3:
2-227309270-A-T
gnomAD v4:
2-227309270-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227309270A>T , CM000664.2:g.227309270A>T | GRCh38 |
| NC_000002.11:g.228173986A>T , CM000664.1:g.228173986A>T | GRCh37 |
| NC_000002.10:g.227882230A>T | NCBI36 |
| NG_011591.1:g.149706A>T , LRG_230:g.149706A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000471862.2:n.1965A>T (COL4A3) | ||
| ENST00000682257.1:n.102A>T (COL4A3) | ||
| ENST00000682970.1:n.18A>T (COL4A3) | ||
| ENST00000683077.1:n.189A>T (COL4A3) | ||
| ENST00000684413.1:n.2274A>T (COL4A3) | ||
| ENST00000684724.1:n.128A>T (COL4A3) | ||
| ENST00000396578.8:c.4707A>T (COL4A3) MANE Select | ENSP00000379823.3:p.Pro1569= | |
| ENST00000469504.2:c.500A>T (COL4A3) | ENSP00000493493.1:n.500A>T | |
| ENST00000643388.1:c.393A>T (COL4A3) | ENSP00000495177.1:p.Pro131= | |
| ENST00000396578.7:c.4707A>T (COL4A3) | ENSP00000379823.3:p.Pro1569= | |
| ENST00000469504.1:n.215A>T (COL4A3) | ||
| NM_000091.4:c.4707A>T , LRG_230t1:c.4707A>T (COL4A3) | NP_000082.2:p.Pro1569= | |
| NR_102371.1:n.48-3615T>A (MFF-DT) | ||
| XM_005246276.2:c.4707A>T (COL4A3) | XP_005246333.1:p.Pro1569= | |
| XM_005246277.2:c.4602A>T (COL4A3) | XP_005246334.1:p.Pro1534= | |
| XM_011510555.1:c.4707A>T (COL4A3) | XP_011508857.1:p.Pro1569= | |
| XM_011510556.1:c.3468A>T (COL4A3) | XP_011508858.1:p.Pro1156= | |
| XR_241280.2:n.4667A>T (COL4A3) | ||
| XM_005246277.3:c.4602A>T (COL4A3) | XP_005246334.1:p.Pro1534= | |
| XM_011510556.2:c.3468A>T (COL4A3) | XP_011508858.1:p.Pro1156= | |
| XR_241280.3:n.4667A>T (COL4A3) | ||
| NM_000091.5:c.4707A>T (COL4A3) MANE Select | NP_000082.2:p.Pro1569= |