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 |
|---|---|---|---|---|---|
| 11 | g.17387385A= | CA1955119242 | KCNJ11 | c.446T= (p.Val149=) c.707T= (p.Val236=) n.865T= | |
| 11 | g.17387385A>C | CA379771334 | KCNJ11 | c.446T>G (p.Val149Gly) c.707T>G (p.Val236Gly) n.865T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387385A>G | CA379771338 | KCNJ11 | c.446T>C (p.Val149Ala) c.707T>C (p.Val236Ala) n.865T>C | |
| 11 | g.17387385A>T | CA379771342 | KCNJ11 | c.446T>A (p.Val149Glu) c.707T>A (p.Val236Glu) n.865T>A | |
| 11 | g.17387386C>A | CA379771346 | KCNJ11 | c.445G>T (p.Val149Leu) c.706G>T (p.Val236Leu) n.864G>T | |
| 11 | g.17387386C= | CA1955119243 | KCNJ11 | c.445G= (p.Val149=) c.706G= (p.Val236=) n.864G= | |
| 11 | g.17387386C>G | CA379771349 | KCNJ11 | c.445G>C (p.Val149Leu) c.706G>C (p.Val236Leu) n.864G>C | |
| 11 | g.17387386C>T | CA379771352 | KCNJ11 | c.445G>A (p.Val149Met) c.706G>A (p.Val236Met) n.864G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387387del | CA2612638732 | KCNJ11 | c.445del (p.Val149TrpfsTer20) c.706del (p.Val236TrpfsTer20) c.445del (p.Val149TrpfsTer?) n.864del | gnomAD v4 |
| 11 | g.17387387C>A | CA379771355 | KCNJ11 | c.444G>T (p.Gln148His) c.705G>T (p.Gln235His) n.863G>T | |
| 11 | g.17387387C>G | CA379771356 | KCNJ11 | c.444G>C (p.Gln148His) c.705G>C (p.Gln235His) n.863G>C | |
| 11 | g.17387387C>T | CA473515605 | KCNJ11 | c.444G>A (p.Gln148=) c.705G>A (p.Gln235=) n.863G>A | |
| 11 | g.17387388T>A | CA379771361 | KCNJ11 | c.443A>T (p.Gln148Leu) c.704A>T (p.Gln235Leu) n.862A>T | |
| 11 | g.17387388T>C | CA379771364 | KCNJ11 | c.443A>G (p.Gln148Arg) c.704A>G (p.Gln235Arg) n.862A>G | |
| 11 | g.17387388T>G | CA379771366 | KCNJ11 | c.443A>C (p.Gln148Pro) c.704A>C (p.Gln235Pro) n.862A>C | |
| 11 | g.17387389G>A | CA379771370 | KCNJ11 | c.442C>T (p.Gln148Ter) c.703C>T (p.Gln235Ter) n.861C>T | |
| 11 | g.17387389G>C | CA379771373 | KCNJ11 | c.442C>G (p.Gln148Glu) c.703C>G (p.Gln235Glu) n.861C>G | |
| 11 | g.17387389G>T | CA379771372 | KCNJ11 | c.442C>A (p.Gln148Lys) c.703C>A (p.Gln235Lys) n.861C>A | |
| 11 | g.17387390G>A | CA473515608 | KCNJ11 | c.441C>T (p.His147=) c.702C>T (p.His234=) n.860C>T | gnomAD v4 |
| 11 | g.17387390G>C | CA379771376 | KCNJ11 | c.441C>G (p.His147Gln) c.702C>G (p.His234Gln) n.860C>G | |
| 11 | g.17387390G>T | CA379771379 | KCNJ11 | c.441C>A (p.His147Gln) c.702C>A (p.His234Gln) n.860C>A | |
| 11 | g.17387391T>A | CA379771384 | KCNJ11 | c.440A>T (p.His147Leu) c.701A>T (p.His234Leu) n.859A>T | |
| 11 | g.17387391T>C | CA379771387 | KCNJ11 | c.440A>G (p.His147Arg) c.701A>G (p.His234Arg) n.859A>G | |
| 11 | g.17387391T>G | CA379771390 | KCNJ11 | c.440A>C (p.His147Pro) c.701A>C (p.His234Pro) n.859A>C | |
| 11 | g.17387392G>A | CA5902261 | KCNJ11 | c.439C>T (p.His147Tyr) c.700C>T (p.His234Tyr) n.858C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387392G>C | CA379771396 | KCNJ11 | c.439C>G (p.His147Asp) c.700C>G (p.His234Asp) n.858C>G | |
| 11 | g.17387392G= | CA1955119244 | KCNJ11 | c.439C= (p.His147=) c.700C= (p.His234=) n.858C= | |
| 11 | g.17387392G>T | CA379771395 | KCNJ11 | c.439C>A (p.His147Asn) c.700C>A (p.His234Asn) n.858C>A | |
| 11 | g.17387393G>A | CA473515612 | KCNJ11 | c.438C>T (p.Leu146=) c.699C>T (p.Leu233=) n.857C>T | |
| 11 | g.17387393G>C | CA473515611 | KCNJ11 | c.438C>G (p.Leu146=) c.699C>G (p.Leu233=) n.857C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387393G= | CA1955119245 | KCNJ11 | c.438C= (p.Leu146=) c.699C= (p.Leu233=) n.857C= | |
| 11 | g.17387393G>T | CA473515610 | KCNJ11 | c.438C>A (p.Leu146=) c.699C>A (p.Leu233=) n.857C>A | |
| 11 | g.17387394A>C | CA379771401 | KCNJ11 | c.437T>G (p.Leu146Arg) c.698T>G (p.Leu233Arg) n.856T>G | |
| 11 | g.17387394A>G | CA379771403 | KCNJ11 | c.437T>C (p.Leu146Pro) c.698T>C (p.Leu233Pro) n.856T>C | |
| 11 | g.17387394A>T | CA379771405 | KCNJ11 | c.437T>A (p.Leu146His) c.698T>A (p.Leu233His) n.856T>A | |
| 11 | g.17387395G>A | CA379771407 | KCNJ11 | c.436C>T (p.Leu146Phe) c.697C>T (p.Leu233Phe) n.855C>T | ClinVar dbSNP COSMIC |
| 11 | g.17387395G>C | CA379771410 | KCNJ11 | c.436C>G (p.Leu146Val) c.697C>G (p.Leu233Val) n.855C>G | |
| 11 | g.17387395G= | CA1955119246 | KCNJ11 | c.436C= (p.Leu146=) c.697C= (p.Leu233=) n.855C= | |
| 11 | g.17387395G>T | CA379771412 | KCNJ11 | c.436C>A (p.Leu146Ile) c.697C>A (p.Leu233Ile) n.855C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17387396G>A | CA473515615 | KCNJ11 | c.435C>T (p.Pro145=) c.696C>T (p.Pro232=) n.854C>T | |
| 11 | g.17387396G>C | CA473515616 | KCNJ11 | c.435C>G (p.Pro145=) c.696C>G (p.Pro232=) n.854C>G | |
| 11 | g.17387396G>T | CA473515617 | KCNJ11 | c.435C>A (p.Pro145=) c.696C>A (p.Pro232=) n.854C>A | |
| 11 | g.17387397G>A | CA218399677 | KCNJ11 | c.434C>T (p.Pro145Leu) c.695C>T (p.Pro232Leu) n.853C>T | dbSNP |
| 11 | g.17387397G>C | CA379771419 | KCNJ11 | c.434C>G (p.Pro145Arg) c.695C>G (p.Pro232Arg) n.853C>G | |
| 11 | g.17387397G= | CA1955119247 | KCNJ11 | c.434C= (p.Pro145=) c.695C= (p.Pro232=) n.853C= | |
| 11 | g.17387397G>T | CA379771416 | KCNJ11 | c.434C>A (p.Pro145His) c.695C>A (p.Pro232His) n.853C>A | |
| 11 | g.17387398G>A | CA379771424 | KCNJ11 | c.433C>T (p.Pro145Ser) c.694C>T (p.Pro232Ser) n.852C>T | |
| 11 | g.17387398G>C | CA379771430 | KCNJ11 | c.433C>G (p.Pro145Ala) c.694C>G (p.Pro232Ala) n.852C>G | |
| 11 | g.17387398G>T | CA379771433 | KCNJ11 | c.433C>A (p.Pro145Thr) c.694C>A (p.Pro232Thr) n.852C>A | |
| 11 | g.17387399C>A | CA473515621 | KCNJ11 | c.432G>T (p.Val144=) c.693G>T (p.Val231=) n.851G>T |