Revel Score:
ENST00000375815
0.620
ENST00000375820 (MANE Select)
0.620
ENST00000397198
0.620
ENST00000543140
0.620
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110307027T>A , CM000675.2:g.110307027T>A | GRCh38 |
| NC_000013.10:g.110959374T>A , CM000675.1:g.110959374T>A | GRCh37 |
| NC_000013.9:g.109757375T>A | NCBI36 |
| NG_011544.2:g.5123A>T | |
| NG_032137.1:g.4744T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.1A>T (COL4A1) MANE Select | ENSP00000364979.4:p.Met1Leu | |
| ENST00000400163.7:c.-44-833T>A (COL4A2) | ENSP00000383027.3:n.-44-833T>A | |
| ENST00000543140.6:c.1A>T (COL4A1) | ENSP00000443348.1:p.Met1Leu | |
| ENST00000649738.1:n.131A>T (COL4A1) | ||
| ENST00000375820.8:c.1A>T (COL4A1) | ENSP00000364979.4:p.Met1Leu | |
| ENST00000400163.6:c.-44-833T>A (COL4A2) | ENSP00000383027.2:n.-44-833T>A | |
| ENST00000543140.5:c.1A>T (COL4A1) | ENSP00000443348.1:p.Met1Leu | |
| NM_001303110.1:c.1A>T (COL4A1) | NP_001290039.1:p.Met1Leu | |
| NM_001845.5:c.1A>T (COL4A1) | NP_001836.3:p.Met1Leu | |
| NM_001845.6:c.1A>T (COL4A1) MANE Select | NP_001836.3:p.Met1Leu | |
| NM_001303110.2:c.1A>T (COL4A1) | NP_001290039.1:p.Met1Leu |