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.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.146018428A>C | CA420603434 | HJV | c.930T>G (p.Ala310=) c.252T>G (p.Ala84=) c.591T>G (p.Ala197=) | |
| 1 | g.146018428A>G | CA420603435 | HJV | c.930T>C (p.Ala310=) c.252T>C (p.Ala84=) c.591T>C (p.Ala197=) | |
| 1 | g.146018428A>T | CA420603433 | HJV | c.930T>A (p.Ala310=) c.252T>A (p.Ala84=) c.591T>A (p.Ala197=) | |
| 1 | g.146018429G>A | CA342135447 | HJV | c.929C>T (p.Ala310Val) c.251C>T (p.Ala84Val) c.590C>T (p.Ala197Val) | |
| 1 | g.146018429G>C | CA1053922 | HJV | c.929C>G (p.Ala310Gly) c.251C>G (p.Ala84Gly) c.590C>G (p.Ala197Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018429G= | CA1140148041 | HJV | c.929C= (p.Ala310=) c.251C= (p.Ala84=) c.590C= (p.Ala197=) | |
| 1 | g.146018429G>T | CA342135448 | HJV | c.929C>A (p.Ala310Asp) c.251C>A (p.Ala84Asp) c.590C>A (p.Ala197Asp) | gnomAD v4 |
| 1 | g.146018430C>A | CA342135449 | HJV | c.928G>T (p.Ala310Ser) c.250G>T (p.Ala84Ser) c.589G>T (p.Ala197Ser) | |
| 1 | g.146018430C>G | CA342135450 | HJV | c.928G>C (p.Ala310Pro) c.250G>C (p.Ala84Pro) c.589G>C (p.Ala197Pro) | |
| 1 | g.146018430C>T | CA342135453 | HJV | c.928G>A (p.Ala310Thr) c.250G>A (p.Ala84Thr) c.589G>A (p.Ala197Thr) | gnomAD v4 |
| 1 | g.146018431T>A | CA420603441 | HJV | c.927A>T (p.Ser309=) c.249A>T (p.Ser83=) c.588A>T (p.Ser196=) | |
| 1 | g.146018431T>C | CA420603440 | HJV | c.927A>G (p.Ser309=) c.249A>G (p.Ser83=) c.588A>G (p.Ser196=) | dbSNP |
| 1 | g.146018431T>G | CA420603439 | HJV | c.927A>C (p.Ser309=) c.249A>C (p.Ser83=) c.588A>C (p.Ser196=) | dbSNP |
| 1 | g.146018432G>A | CA342135471 | HJV | c.926C>T (p.Ser309Leu) c.248C>T (p.Ser83Leu) c.587C>T (p.Ser196Leu) | |
| 1 | g.146018432G>C | CA342135472 | HJV | c.926C>G (p.Ser309Ter) c.248C>G (p.Ser83Ter) c.587C>G (p.Ser196Ter) | gnomAD v4 |
| 1 | g.146018432G>T | CA342135479 | HJV | c.926C>A (p.Ser309Ter) c.248C>A (p.Ser83Ter) c.587C>A (p.Ser196Ter) | COSMIC |
| 1 | g.146018433A= | CA1198820963 | HJV | c.925T= (p.Ser309=) c.247T= (p.Ser83=) c.586T= (p.Ser196=) | |
| 1 | g.146018433A>C | CA342135485 | HJV | c.925T>G (p.Ser309Ala) c.247T>G (p.Ser83Ala) c.586T>G (p.Ser196Ala) | gnomAD v4 |
| 1 | g.146018433A>G | CA342135494 | HJV | c.925T>C (p.Ser309Pro) c.247T>C (p.Ser83Pro) c.586T>C (p.Ser196Pro) | |
| 1 | g.146018433A>T | CA342135499 | HJV | c.925T>A (p.Ser309Thr) c.247T>A (p.Ser83Thr) c.586T>A (p.Ser196Thr) | dbSNP |
| 1 | g.146018434G>A | CA420603444 | HJV | c.924C>T (p.Phe308=) c.246C>T (p.Phe82=) c.585C>T (p.Phe195=) | |
| 1 | g.146018434G>C | CA342135500 | HJV | c.924C>G (p.Phe308Leu) c.246C>G (p.Phe82Leu) c.585C>G (p.Phe195Leu) | |
| 1 | g.146018434G>T | CA342135501 | HJV | c.924C>A (p.Phe308Leu) c.246C>A (p.Phe82Leu) c.585C>A (p.Phe195Leu) | |
| 1 | g.146018435A>C | CA342135509 | HJV | c.923T>G (p.Phe308Cys) c.245T>G (p.Phe82Cys) c.584T>G (p.Phe195Cys) | |
| 1 | g.146018435A>G | CA342135513 | HJV | c.923T>C (p.Phe308Ser) c.245T>C (p.Phe82Ser) c.584T>C (p.Phe195Ser) | |
| 1 | g.146018435A>T | CA342135503 | HJV | c.923T>A (p.Phe308Tyr) c.245T>A (p.Phe82Tyr) c.584T>A (p.Phe195Tyr) | |
| 1 | g.146018436A>C | CA342135518 | HJV | c.922T>G (p.Phe308Val) c.244T>G (p.Phe82Val) c.583T>G (p.Phe195Val) | |
| 1 | g.146018436A>G | CA342135528 | HJV | c.922T>C (p.Phe308Leu) c.244T>C (p.Phe82Leu) c.583T>C (p.Phe195Leu) | |
| 1 | g.146018436A>T | CA342135532 | HJV | c.922T>A (p.Phe308Ile) c.244T>A (p.Phe82Ile) c.583T>A (p.Phe195Ile) | |
| 1 | g.146018436_146018442delinsAGGCCAT | CA1198820964 | HJV | c.916_922delinsATGGCCT (p.Met306=) c.238_244delinsATGGCCT (p.Met80=) c.577_583delinsATGGCCT (p.Met193=) | |
| 1 | g.146018437G>A | CA29823676 | HJV | c.921C>T (p.Ala307=) c.243C>T (p.Ala81=) c.582C>T (p.Ala194=) | dbSNP |
| 1 | g.146018437G>C | CA420603450 | HJV | c.921C>G (p.Ala307=) c.243C>G (p.Ala81=) c.582C>G (p.Ala194=) | |
| 1 | g.146018437G= | CA1198820965 | HJV | c.921C= (p.Ala307=) c.243C= (p.Ala81=) c.582C= (p.Ala194=) | |
| 1 | g.146018437G>T | CA420603452 | HJV | c.921C>A (p.Ala307=) c.243C>A (p.Ala81=) c.582C>A (p.Ala194=) | gnomAD v4 |
| 1 | g.146018442_146018447del | CA888579244 | HJV | c.916_921del (p.Met306_Ala307del) c.238_243del (p.Met80_Ala81del) c.577_582del (p.Met193_Ala194del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.146018438G>A | CA342135545 | HJV | c.920C>T (p.Ala307Val) c.242C>T (p.Ala81Val) c.581C>T (p.Ala194Val) | |
| 1 | g.146018438G>C | CA342135546 | HJV | c.920C>G (p.Ala307Gly) c.242C>G (p.Ala81Gly) c.581C>G (p.Ala194Gly) | |
| 1 | g.146018438G>T | CA342135551 | HJV | c.920C>A (p.Ala307Asp) c.242C>A (p.Ala81Asp) c.581C>A (p.Ala194Asp) | |
| 1 | g.146018439C>A | CA342135555 | HJV | c.919G>T (p.Ala307Ser) c.241G>T (p.Ala81Ser) c.580G>T (p.Ala194Ser) | |
| 1 | g.146018439C>G | CA342135557 | HJV | c.919G>C (p.Ala307Pro) c.241G>C (p.Ala81Pro) c.580G>C (p.Ala194Pro) | |
| 1 | g.146018439C>T | CA342135561 | HJV | c.919G>A (p.Ala307Thr) c.241G>A (p.Ala81Thr) c.580G>A (p.Ala194Thr) | gnomAD v4 |
| 1 | g.146018440del | CA2573131054 | HJV | c.919del (p.Ala307ProfsTer?) c.241del (p.Ala81ProfsTer?) c.580del (p.Ala194ProfsTer?) | ClinVar dbSNP |
| 1 | g.146018440C>A | CA29823692 | HJV | c.918G>T (p.Met306Ile) c.240G>T (p.Met80Ile) c.579G>T (p.Met193Ile) | |
| 1 | g.146018440C= | CA1198820966 | HJV | c.918G= (p.Met306=) c.240G= (p.Met80=) c.579G= (p.Met193=) | |
| 1 | g.146018440C>G | CA29823700 | HJV | c.918G>C (p.Met306Ile) c.240G>C (p.Met80Ile) c.579G>C (p.Met193Ile) | |
| 1 | g.146018440C>T | CA1053921 | HJV | c.918G>A (p.Met306Ile) c.240G>A (p.Met80Ile) c.579G>A (p.Met193Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018441A>C | CA342135582 | HJV | c.917T>G (p.Met306Arg) c.239T>G (p.Met80Arg) c.578T>G (p.Met193Arg) | |
| 1 | g.146018441A>G | CA342135580 | HJV | c.917T>C (p.Met306Thr) c.239T>C (p.Met80Thr) c.578T>C (p.Met193Thr) | gnomAD v4 |
| 1 | g.146018441A>T | CA342135578 | HJV | c.917T>A (p.Met306Lys) c.239T>A (p.Met80Lys) c.578T>A (p.Met193Lys) | |
| 1 | g.146018442T>A | CA342135584 | HJV | c.916A>T (p.Met306Leu) c.238A>T (p.Met80Leu) c.577A>T (p.Met193Leu) |