Linked Data
ClinVar Variation Id:
287915
ClinVar RCV Id:
RCV000283598
RCV000516971
RCV000677316
RCV001141624
RCV001536080
RCV003401260
RCV004549601
dbSNP Id:
rs201697532
ExAC:
2:228176554 C / T
gnomAD v2:
2-228176554-C-T
gnomAD v3:
2-227311838-C-T
gnomAD v4:
2-227311838-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227311838C>T , CM000664.2:g.227311838C>T | GRCh38 |
| NC_000002.11:g.228176554C>T , CM000664.1:g.228176554C>T | GRCh37 |
| NC_000002.10:g.227884798C>T | NCBI36 |
| NG_011591.1:g.152274C>T , LRG_230:g.152274C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.2239C>T (COL4A3) | ||
| ENST00000682257.1:n.203C>T (COL4A3) | ||
| ENST00000682970.1:n.279C>T (COL4A3) | ||
| ENST00000683077.1:n.1920C>T (COL4A3) | ||
| ENST00000684413.1:n.2548C>T (COL4A3) | ||
| ENST00000684724.1:n.402C>T (COL4A3) | ||
| ENST00000396578.8:c.4981C>T (COL4A3) MANE Select | ENSP00000379823.3:p.Arg1661Cys | |
| ENST00000469504.2:c.774C>T (COL4A3) | ENSP00000493493.1:n.774C>T | |
| ENST00000643388.1:c.494C>T (COL4A3) | ENSP00000495177.1:p.Ser165Leu | |
| ENST00000396578.7:c.4981C>T (COL4A3) | ENSP00000379823.3:p.Arg1661Cys | |
| ENST00000469504.1:n.489C>T (COL4A3) | ||
| NM_000091.4:c.4981C>T , LRG_230t1:c.4981C>T (COL4A3) | NP_000082.2:p.Arg1661Cys | |
| NR_102371.1:n.48-6183G>A (MFF-DT) | ||
| XM_005246276.2:c.4808C>T (COL4A3) | XP_005246333.1:p.Ser1603Leu | |
| XM_005246277.2:c.4876C>T (COL4A3) | XP_005246334.1:p.Arg1626Cys | |
| XM_011510556.1:c.3742C>T (COL4A3) | XP_011508858.1:p.Arg1248Cys | |
| XR_241280.2:n.4941C>T (COL4A3) | ||
| XM_005246277.3:c.4876C>T (COL4A3) | XP_005246334.1:p.Arg1626Cys | |
| XM_011510556.2:c.3742C>T (COL4A3) | XP_011508858.1:p.Arg1248Cys | |
| XR_241280.3:n.4941C>T (COL4A3) | ||
| NM_000091.5:c.4981C>T (COL4A3) MANE Select | NP_000082.2:p.Arg1661Cys |