UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs3025035
gnomAD v2:
6-43751359-C-T
gnomAD v3:
6-43783622-C-T
gnomAD v4:
6-43783622-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43783622C>T , CM000668.2:g.43783622C>T | GRCh38 |
| NC_000006.11:g.43751359C>T , CM000668.1:g.43751359C>T | GRCh37 |
| NC_000006.10:g.43859337C>T | NCBI36 |
| NG_008732.1:g.18407C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000425836.9:c.1095-919C>T (VEGFA) | ENSP00000388465.4:n.1095-919C>T | |
| ENST00000425836.8:c.1095-919C>T (VEGFA) | ENSP00000388465.4:n.1095-919C>T | |
| ENST00000672860.3:c.1167-919C>T (VEGFA) MANE Select | ENSP00000500082.3:n.1167-919C>T | |
| ENST00000324450.11:c.933-919C>T (VEGFA) | ENSP00000317598.7:n.933-919C>T | |
| ENST00000372055.9:c.1218-919C>T (VEGFA) | ENSP00000361125.5:n.1218-919C>T | |
| ENST00000372064.9:c.963-919C>T (VEGFA) | ENSP00000361134.5:n.963-919C>T | |
| ENST00000372067.8:c.1095-919C>T (VEGFA) | ENSP00000361137.4:n.1095-919C>T | |
| ENST00000413642.8:c.1149-919C>T (VEGFA) | ENSP00000389864.4:n.1149-919C>T | |
| ENST00000417285.7:c.1060-919C>T (VEGFA) | ENSP00000388663.3:n.1060-919C>T | |
| ENST00000425836.7:c.1167-919C>T (VEGFA) | ENSP00000388465.3:n.1167-919C>T | |
| ENST00000482630.7:c.1095-985C>T (VEGFA) | ENSP00000421561.2:n.1095-985C>T | |
| ENST00000672860.2:c.1095-919C>T (VEGFA) | ENSP00000500082.2:n.1095-919C>T | |
| ENST00000230480.10:c.471-919C>T (VEGFA) | ENSP00000230480.6:n.471-919C>T | |
| ENST00000324450.10:c.933-919C>T (VEGFA) | ENSP00000317598.6:n.933-919C>T | |
| ENST00000372055.8:c.1218-919C>T (VEGFA) | ENSP00000361125.4:n.1218-919C>T | |
| ENST00000372064.8:c.963-919C>T (VEGFA) | ENSP00000361134.4:n.963-919C>T | |
| ENST00000372067.7:c.1095-919C>T (VEGFA) | ENSP00000361137.3:n.1095-919C>T | |
| ENST00000372077.8:c.423-919C>T (VEGFA) | ENSP00000361148.4:n.423-919C>T | |
| ENST00000413642.7:c.1149-919C>T (VEGFA) | ENSP00000389864.3:n.1149-919C>T | |
| ENST00000417285.6:c.1060-919C>T (VEGFA) | ENSP00000388663.2:n.1060-919C>T | |
| ENST00000425836.6:c.1167-919C>T (VEGFA) | ENSP00000388465.2:n.1167-919C>T | |
| ENST00000457104.6:c.393-919C>T (VEGFA) | ENSP00000409911.2:n.393-919C>T | |
| ENST00000480614.1:n.9305C>T (VEGFA) | ||
| ENST00000482630.6:c.1095-985C>T (VEGFA) | ENSP00000421561.1:n.1095-985C>T | |
| ENST00000493786.2:n.528-919C>T (VEGFA) | ||
| ENST00000497139.5:n.848-919C>T (VEGFA) | ||
| ENST00000518689.5:c.609-919C>T (VEGFA) | ENSP00000430829.1:n.609-919C>T | |
| ENST00000518824.5:c.555-985C>T (VEGFA) | ENSP00000430002.1:n.555-985C>T | |
| ENST00000519767.5:c.949-919C>T (VEGFA) | ||
| ENST00000520265.1:c.315-919C>T (VEGFA) | ENSP00000429592.1:n.315-919C>T | |
| ENST00000520948.5:c.627-919C>T (VEGFA) | ENSP00000428321.1:n.627-919C>T | |
| ENST00000523125.5:c.520-919C>T (VEGFA) | ENSP00000429008.1:n.520-919C>T | |
| ENST00000523873.5:c.678-919C>T (VEGFA) | ENSP00000430479.1:n.678-919C>T | |
| ENST00000523950.5:c.555-919C>T (VEGFA) | ENSP00000429643.1:n.555-919C>T | |
| ENST00000611736.4:c.1218-919C>T (VEGFA) | ENSP00000478570.1:n.1218-919C>T | |
| ENST00000615393.4:c.963-919C>T (VEGFA) | ENSP00000478034.1:n.963-919C>T | |
| ENST00000617771.4:c.933-919C>T (VEGFA) | ENSP00000484284.1:n.933-919C>T | |
| ENST00000621747.4:c.1095-919C>T (VEGFA) | ENSP00000483241.1:n.1095-919C>T | |
| NM_001025366.2:c.1218-919C>T (VEGFA) | NP_001020537.2:n.1218-919C>T | |
| NM_001025367.2:c.1149-919C>T (VEGFA) | NP_001020538.2:n.1149-919C>T | |
| NM_001025368.2:c.1095-919C>T (VEGFA) | NP_001020539.2:n.1095-919C>T | |
| NM_001025369.2:c.1060-919C>T (VEGFA) | NP_001020540.2:n.1060-919C>T | |
| NM_001025370.2:c.963-919C>T (VEGFA) | NP_001020541.2:n.963-919C>T | |
| NM_001033756.2:c.1095-985C>T (VEGFA) | NP_001028928.1:n.1095-985C>T | |
| NM_001171622.1:c.933-919C>T (VEGFA) | NP_001165093.1:n.933-919C>T | |
| NM_001171623.1:c.678-919C>T (VEGFA) | NP_001165094.1:n.678-919C>T | |
| NM_001171624.1:c.627-919C>T (VEGFA) | NP_001165095.1:n.627-919C>T | |
| NM_001171625.1:c.609-919C>T (VEGFA) | NP_001165096.1:n.609-919C>T | |
| NM_001171626.1:c.555-919C>T (VEGFA) | NP_001165097.1:n.555-919C>T | |
| NM_001171627.1:c.520-919C>T (VEGFA) | NP_001165098.1:n.520-919C>T | |
| NM_001171628.1:c.423-919C>T (VEGFA) | NP_001165099.1:n.423-919C>T | |
| NM_001171629.1:c.555-985C>T (VEGFA) | NP_001165100.1:n.555-985C>T | |
| NM_001171630.1:c.393-919C>T (VEGFA) | NP_001165101.1:n.393-919C>T | |
| NM_001204384.1:c.495-919C>T (VEGFA) | NP_001191313.1:n.495-919C>T | |
| NM_001204385.1:c.1035-919C>T (VEGFA) | NP_001191314.1:n.1035-919C>T | |
| NM_001287044.1:c.471-919C>T (VEGFA) | NP_001273973.1:n.471-919C>T | |
| NM_001317010.1:c.555-919C>T (VEGFA) | NP_001303939.1:n.555-919C>T | |
| NM_003376.5:c.1167-919C>T (VEGFA) | NP_003367.4:n.1167-919C>T | |
| NM_001025366.3:c.1218-919C>T (VEGFA) | NP_001020537.2:n.1218-919C>T | |
| NM_001025367.3:c.1149-919C>T (VEGFA) | NP_001020538.2:n.1149-919C>T | |
| NM_001025368.3:c.1095-919C>T (VEGFA) | NP_001020539.2:n.1095-919C>T | |
| NM_001025369.3:c.1060-919C>T (VEGFA) | NP_001020540.2:n.1060-919C>T | |
| NM_001025370.3:c.963-919C>T (VEGFA) | NP_001020541.2:n.963-919C>T | |
| NM_001033756.3:c.1095-985C>T (VEGFA) | NP_001028928.1:n.1095-985C>T | |
| NM_001171622.2:c.933-919C>T (VEGFA) | NP_001165093.1:n.933-919C>T | |
| NM_001204385.2:c.1035-919C>T (VEGFA) | NP_001191314.1:n.1035-919C>T | |
| NM_001287044.2:c.471-919C>T (VEGFA) | NP_001273973.1:n.471-919C>T | |
| NM_003376.6:c.1167-919C>T (VEGFA) MANE Select | NP_003367.4:n.1167-919C>T | |
| NM_001171623.2:c.678-919C>T (VEGFA) | NP_001165094.1:n.678-919C>T | |
| NM_001171624.2:c.627-919C>T (VEGFA) | NP_001165095.1:n.627-919C>T | |
| NM_001171625.2:c.609-919C>T (VEGFA) | NP_001165096.1:n.609-919C>T | |
| NM_001171626.2:c.555-919C>T (VEGFA) | NP_001165097.1:n.555-919C>T | |
| NM_001171627.2:c.520-919C>T (VEGFA) | NP_001165098.1:n.520-919C>T | |
| NM_001171628.2:c.423-919C>T (VEGFA) | NP_001165099.1:n.423-919C>T | |
| NM_001171629.2:c.555-985C>T (VEGFA) | NP_001165100.1:n.555-985C>T | |
| NM_001171630.2:c.393-919C>T (VEGFA) | NP_001165101.1:n.393-919C>T | |
| NM_001204384.2:c.495-919C>T (VEGFA) | NP_001191313.1:n.495-919C>T | |
| NM_001318876.2:c.945+254351C>T (POLR1C) | NP_001305805.1:n.945+254351C>T |