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.17387344A>C | CA379771031 | KCNJ11 | c.487T>G (p.Phe163Val) c.748T>G (p.Phe250Val) n.906T>G | |
| 11 | g.17387344A>G | CA379771035 | KCNJ11 | c.487T>C (p.Phe163Leu) c.748T>C (p.Phe250Leu) n.906T>C | |
| 11 | g.17387344A>T | CA379771038 | KCNJ11 | c.487T>A (p.Phe163Ile) c.748T>A (p.Phe250Ile) n.906T>A | |
| 11 | g.17387345G>A | CA473515465 | KCNJ11 | c.486C>T (p.Ile162=) c.747C>T (p.Ile249=) n.905C>T | dbSNP |
| 11 | g.17387345G>C | CA379771041 | KCNJ11 | c.486C>G (p.Ile162Met) c.747C>G (p.Ile249Met) n.905C>G | |
| 11 | g.17387345G= | CA1955119223 | KCNJ11 | c.486C= (p.Ile162=) c.747C= (p.Ile249=) n.905C= | |
| 11 | g.17387345G>T | CA473515466 | KCNJ11 | c.486C>A (p.Ile162=) c.747C>A (p.Ile249=) n.905C>A | |
| 11 | g.17387346A>C | CA379771046 | KCNJ11 | c.485T>G (p.Ile162Ser) c.746T>G (p.Ile249Ser) n.904T>G | |
| 11 | g.17387346A>G | CA379771049 | KCNJ11 | c.485T>C (p.Ile162Thr) c.746T>C (p.Ile249Thr) n.904T>C | |
| 11 | g.17387346A>T | CA379771052 | KCNJ11 | c.485T>A (p.Ile162Asn) c.746T>A (p.Ile249Asn) n.904T>A | |
| 11 | g.17387347T>A | CA379771057 | KCNJ11 | c.484A>T (p.Ile162Phe) c.745A>T (p.Ile249Phe) n.903A>T | |
| 11 | g.17387347T>C | CA5902255 | KCNJ11 | c.484A>G (p.Ile162Val) c.745A>G (p.Ile249Val) n.903A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387347T>G | CA379771061 | KCNJ11 | c.484A>C (p.Ile162Leu) c.745A>C (p.Ile249Leu) n.903A>C | |
| 11 | g.17387347T= | CA1955119224 | KCNJ11 | c.484A= (p.Ile162=) c.745A= (p.Ile249=) n.903A= | |
| 11 | g.17387348G>A | CA473515470 | KCNJ11 | c.483C>T (p.Ser161=) c.744C>T (p.Ser248=) n.902C>T | |
| 11 | g.17387348G>C | CA379771065 | KCNJ11 | c.483C>G (p.Ser161Arg) c.744C>G (p.Ser248Arg) n.902C>G | |
| 11 | g.17387348G>T | CA379771068 | KCNJ11 | c.483C>A (p.Ser161Arg) c.744C>A (p.Ser248Arg) n.902C>A | |
| 11 | g.17387349C>A | CA379771076 | KCNJ11 | c.482G>T (p.Ser161Ile) c.743G>T (p.Ser248Ile) n.901G>T | |
| 11 | g.17387349C= | CA1955119225 | KCNJ11 | c.482G= (p.Ser161=) c.743G= (p.Ser248=) n.901G= | |
| 11 | g.17387349C>G | CA379771077 | KCNJ11 | c.482G>C (p.Ser161Thr) c.743G>C (p.Ser248Thr) n.901G>C | |
| 11 | g.17387349C>T | CA379771073 | KCNJ11 | c.482G>A (p.Ser161Asn) c.743G>A (p.Ser248Asn) n.901G>A | dbSNP |
| 11 | g.17387350T>A | CA379771081 | KCNJ11 | c.481A>T (p.Ser161Cys) c.742A>T (p.Ser248Cys) n.900A>T | |
| 11 | g.17387350T>C | CA379771084 | KCNJ11 | c.481A>G (p.Ser161Gly) c.742A>G (p.Ser248Gly) n.900A>G | |
| 11 | g.17387350T>G | CA379771087 | KCNJ11 | c.481A>C (p.Ser161Arg) c.742A>C (p.Ser248Arg) n.900A>C | |
| 11 | g.17387351G>A | CA10630458 | KCNJ11 | c.480C>T (p.Asn160=) c.741C>T (p.Asn247=) n.899C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387351G>C | CA379771093 | KCNJ11 | c.480C>G (p.Asn160Lys) c.741C>G (p.Asn247Lys) n.899C>G | |
| 11 | g.17387351G= | CA1955119226 | KCNJ11 | c.480C= (p.Asn160=) c.741C= (p.Asn247=) n.899C= | |
| 11 | g.17387351G>T | CA379771096 | KCNJ11 | c.480C>A (p.Asn160Lys) c.741C>A (p.Asn247Lys) n.899C>A | |
| 11 | g.17387352T>A | CA379771105 | KCNJ11 | c.479A>T (p.Asn160Ile) c.740A>T (p.Asn247Ile) n.898A>T | |
| 11 | g.17387352T>C | CA379771099 | KCNJ11 | c.479A>G (p.Asn160Ser) c.740A>G (p.Asn247Ser) n.898A>G | |
| 11 | g.17387352T>G | CA379771101 | KCNJ11 | c.479A>C (p.Asn160Thr) c.740A>C (p.Asn247Thr) n.898A>C | gnomAD v4 |
| 11 | g.17387353T>A | CA379771109 | KCNJ11 | c.478A>T (p.Asn160Tyr) c.739A>T (p.Asn247Tyr) n.897A>T | |
| 11 | g.17387353T>C | CA379771111 | KCNJ11 | c.478A>G (p.Asn160Asp) c.739A>G (p.Asn247Asp) n.897A>G | |
| 11 | g.17387353T>G | CA379771114 | KCNJ11 | c.478A>C (p.Asn160His) c.739A>C (p.Asn247His) n.897A>C | |
| 11 | g.17387354G>A | CA473515473 | KCNJ11 | c.477C>T (p.Gly159=) c.738C>T (p.Gly246=) n.896C>T | |
| 11 | g.17387354G>C | CA473515474 | KCNJ11 | c.477C>G (p.Gly159=) c.738C>G (p.Gly246=) n.896C>G | |
| 11 | g.17387354G>T | CA473515475 | KCNJ11 | c.477C>A (p.Gly159=) c.738C>A (p.Gly246=) n.896C>A | |
| 11 | g.17387355C>A | CA379771117 | KCNJ11 | c.476G>T (p.Gly159Val) c.737G>T (p.Gly246Val) n.895G>T | |
| 11 | g.17387355C>G | CA379771120 | KCNJ11 | c.476G>C (p.Gly159Ala) c.737G>C (p.Gly246Ala) n.895G>C | |
| 11 | g.17387355C>T | CA379771123 | KCNJ11 | c.476G>A (p.Gly159Asp) c.737G>A (p.Gly246Asp) n.895G>A | |
| 11 | g.17387356C>A | CA379771126 | KCNJ11 | c.475G>T (p.Gly159Cys) c.736G>T (p.Gly246Cys) n.894G>T | |
| 11 | g.17387356C= | CA1955119227 | KCNJ11 | c.475G= (p.Gly159=) c.736G= (p.Gly246=) n.894G= | |
| 11 | g.17387356C>G | CA379771133 | KCNJ11 | c.475G>C (p.Gly159Arg) c.736G>C (p.Gly246Arg) n.894G>C | |
| 11 | g.17387356C>T | CA218399632 | KCNJ11 | c.475G>A (p.Gly159Ser) c.736G>A (p.Gly246Ser) n.894G>A | dbSNP |
| 11 | g.17387357A>C | CA473515479 | KCNJ11 | c.474T>G (p.Gly158=) c.735T>G (p.Gly245=) n.893T>G | |
| 11 | g.17387357A>G | CA473515478 | KCNJ11 | c.474T>C (p.Gly158=) c.735T>C (p.Gly245=) n.893T>C | |
| 11 | g.17387357A>T | CA473515477 | KCNJ11 | c.474T>A (p.Gly158=) c.735T>A (p.Gly245=) n.893T>A | |
| 11 | g.17387358C>A | CA379771135 | KCNJ11 | c.473G>T (p.Gly158Val) c.734G>T (p.Gly245Val) n.892G>T | |
| 11 | g.17387358C= | CA1955119228 | KCNJ11 | c.473G= (p.Gly158=) c.734G= (p.Gly245=) n.892G= | |
| 11 | g.17387358C>G | CA379771137 | KCNJ11 | c.473G>C (p.Gly158Ala) c.734G>C (p.Gly245Ala) n.892G>C |