Linked Data
ClinVar Variation Id:
369964
ClinVar RCV Id:
RCV000408794
RCV001001294
RCV001240936
RCV001535934
RCV002225103
RCV002288979
RCV002294326
RCV003226288
RCV003922661
dbSNP Id:
rs200287952
ExAC:
2:228142227 G / A
gnomAD v2:
2-228142227-G-A
gnomAD v3:
2-227277511-G-A
gnomAD v4:
2-227277511-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227277511G>A , CM000664.2:g.227277511G>A | GRCh38 |
| NC_000002.11:g.228142227G>A , CM000664.1:g.228142227G>A | GRCh37 |
| NC_000002.10:g.227850471G>A | NCBI36 |
| NG_011591.1:g.117947G>A , LRG_230:g.117947G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396578.8:c.2083G>A (COL4A3) MANE Select | ENSP00000379823.3:p.Gly695Arg | |
| ENST00000396578.7:c.2083G>A (COL4A3) | ENSP00000379823.3:p.Gly695Arg | |
| NM_000091.4:c.2083G>A , LRG_230t1:c.2083G>A (COL4A3) | NP_000082.2:p.Gly695Arg | |
| NR_102371.1:n.422+1972C>T (MFF-DT) | ||
| XM_005246276.2:c.2083G>A (COL4A3) | XP_005246333.1:p.Gly695Arg | |
| XM_005246277.2:c.2020+1034G>A (COL4A3) | XP_005246334.1:n.2020+1034G>A | |
| XM_005246280.2:c.2083G>A (COL4A3) | XP_005246337.1:p.Gly695Arg | |
| XM_006712245.2:c.2083G>A (COL4A3) | XP_006712308.1:p.Gly695Arg | |
| XM_011510555.1:c.2083G>A (COL4A3) | XP_011508857.1:p.Gly695Arg | |
| XM_011510556.1:c.844G>A (COL4A3) | XP_011508858.1:p.Gly282Arg | |
| XR_241280.2:n.2221G>A (COL4A3) | ||
| XM_005246277.3:c.2020+1034G>A (COL4A3) | XP_005246334.1:n.2020+1034G>A | |
| XM_005246280.3:c.2083G>A (COL4A3) | XP_005246337.1:p.Gly695Arg | |
| XM_006712245.3:c.2083G>A (COL4A3) | XP_006712308.1:p.Gly695Arg | |
| XM_011510556.2:c.844G>A (COL4A3) | XP_011508858.1:p.Gly282Arg | |
| XM_017003295.1:c.2083G>A (COL4A3) | XP_016858784.1:p.Gly695Arg | |
| XR_001738601.1:n.2221G>A (COL4A3) | ||
| XR_241280.3:n.2221G>A (COL4A3) | ||
| NM_000091.5:c.2083G>A (COL4A3) MANE Select | NP_000082.2:p.Gly695Arg |