Linked Data
ClinVar Variation Id:
334788
dbSNP Id:
rs190701197
ExAC:
2:228175479 A / T
gnomAD v2:
2-228175479-A-T
gnomAD v3:
2-227310763-A-T
gnomAD v4:
2-227310763-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227310763A>T , CM000664.2:g.227310763A>T | GRCh38 |
| NC_000002.11:g.228175479A>T , CM000664.1:g.228175479A>T | GRCh37 |
| NC_000002.10:g.227883723A>T | NCBI36 |
| NG_011591.1:g.151199A>T , LRG_230:g.151199A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.2014-13A>T (COL4A3) | ||
| ENST00000682257.1:n.151-1023A>T (COL4A3) | ||
| ENST00000682970.1:n.67-26A>T (COL4A3) | ||
| ENST00000683077.1:n.1682A>T (COL4A3) | ||
| ENST00000684413.1:n.2323-13A>T (COL4A3) | ||
| ENST00000684724.1:n.177-13A>T (COL4A3) | ||
| ENST00000396578.8:c.4756-13A>T (COL4A3) MANE Select | ENSP00000379823.3:n.4756-13A>T | |
| ENST00000469504.2:c.549-13A>T (COL4A3) | ENSP00000493493.1:n.549-13A>T | |
| ENST00000643388.1:c.442-1023A>T (COL4A3) | ENSP00000495177.1:n.442-1023A>T | |
| ENST00000396578.7:c.4756-13A>T (COL4A3) | ENSP00000379823.3:n.4756-13A>T | |
| ENST00000469504.1:n.264-13A>T (COL4A3) | ||
| NM_000091.4:c.4756-13A>T , LRG_230t1:c.4756-13A>T (COL4A3) | NP_000082.2:n.4756-13A>T | |
| NR_102371.1:n.48-5108T>A (MFF-DT) | ||
| XM_005246276.2:c.4756-1023A>T (COL4A3) | XP_005246333.1:n.4756-1023A>T | |
| XM_005246277.2:c.4651-13A>T (COL4A3) | XP_005246334.1:n.4651-13A>T | |
| XM_011510555.1:c.4756-26A>T (COL4A3) | XP_011508857.1:n.4756-26A>T | |
| XM_011510556.1:c.3517-13A>T (COL4A3) | XP_011508858.1:n.3517-13A>T | |
| XR_241280.2:n.4716-13A>T (COL4A3) | ||
| XM_005246277.3:c.4651-13A>T (COL4A3) | XP_005246334.1:n.4651-13A>T | |
| XM_011510556.2:c.3517-13A>T (COL4A3) | XP_011508858.1:n.3517-13A>T | |
| XR_241280.3:n.4716-13A>T (COL4A3) | ||
| NM_000091.5:c.4756-13A>T (COL4A3) MANE Select | NP_000082.2:n.4756-13A>T |