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.17387336C>A | CA473515454 | KCNJ11 | c.495G>T (p.Val165=) c.756G>T (p.Val252=) n.914G>T | |
| 11 | g.17387336C>G | CA473515455 | KCNJ11 | c.495G>C (p.Val165=) c.756G>C (p.Val252=) n.914G>C | |
| 11 | g.17387336C>T | CA473515456 | KCNJ11 | c.495G>A (p.Val165=) c.756G>A (p.Val252=) n.914G>A | |
| 11 | g.17387337del | CA2612638705 | KCNJ11 | c.494del (p.Val165GlyfsTer4) c.755del (p.Val252GlyfsTer4) n.913del | gnomAD v4 |
| 11 | g.17387337A= | CA1955119220 | KCNJ11 | c.494T= (p.Val165=) c.755T= (p.Val252=) n.913T= | |
| 11 | g.17387337A>C | CA379770983 | KCNJ11 | c.494T>G (p.Val165Gly) c.755T>G (p.Val252Gly) n.913T>G | |
| 11 | g.17387337A>G | CA341726 | KCNJ11 | c.494T>C (p.Val165Ala) c.755T>C (p.Val252Ala) n.913T>C | ClinVar dbSNP |
| 11 | g.17387337A>T | CA379770987 | KCNJ11 | c.494T>A (p.Val165Glu) c.755T>A (p.Val252Glu) n.913T>A | |
| 11 | g.17387338C>A | CA379770990 | KCNJ11 | c.493G>T (p.Val165Leu) c.754G>T (p.Val252Leu) n.912G>T | ClinVar dbSNP |
| 11 | g.17387338C>G | CA379770993 | KCNJ11 | c.493G>C (p.Val165Leu) c.754G>C (p.Val252Leu) n.912G>C | |
| 11 | g.17387338C>T | CA379770996 | KCNJ11 | c.493G>A (p.Val165Met) c.754G>A (p.Val252Met) n.912G>A | |
| 11 | g.17387339C>A | CA473515458 | KCNJ11 | c.492G>T (p.Leu164=) c.753G>T (p.Leu251=) n.911G>T | |
| 11 | g.17387339C= | CA1955119221 | KCNJ11 | c.492G= (p.Leu164=) c.753G= (p.Leu251=) n.911G= | |
| 11 | g.17387339C>G | CA5902254 | KCNJ11 | c.492G>C (p.Leu164=) c.753G>C (p.Leu251=) n.911G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387339C>T | CA473515459 | KCNJ11 | c.492G>A (p.Leu164=) c.753G>A (p.Leu251=) n.911G>A | |
| 11 | g.17387340A>C | CA379771004 | KCNJ11 | c.491T>G (p.Leu164Arg) c.752T>G (p.Leu251Arg) n.910T>G | |
| 11 | g.17387340A>G | CA379771008 | KCNJ11 | c.491T>C (p.Leu164Pro) c.752T>C (p.Leu251Pro) n.910T>C | |
| 11 | g.17387340A>T | CA379771005 | KCNJ11 | c.491T>A (p.Leu164Gln) c.752T>A (p.Leu251Gln) n.910T>A | |
| 11 | g.17387341G>A | CA473515460 | KCNJ11 | c.490C>T (p.Leu164=) c.751C>T (p.Leu251=) n.909C>T | |
| 11 | g.17387341G>C | CA379771010 | KCNJ11 | c.490C>G (p.Leu164Val) c.751C>G (p.Leu251Val) n.909C>G | |
| 11 | g.17387341G>T | CA379771011 | KCNJ11 | c.490C>A (p.Leu164Met) c.751C>A (p.Leu251Met) n.909C>A | |
| 11 | g.17387342G>A | CA473515461 | KCNJ11 | c.489C>T (p.Phe163=) c.750C>T (p.Phe250=) n.908C>T | dbSNP |
| 11 | g.17387342G>C | CA379771016 | KCNJ11 | c.489C>G (p.Phe163Leu) c.750C>G (p.Phe250Leu) n.908C>G | |
| 11 | g.17387342G= | CA1955119222 | KCNJ11 | c.489C= (p.Phe163=) c.750C= (p.Phe250=) n.908C= | |
| 11 | g.17387342G>T | CA379771018 | KCNJ11 | c.489C>A (p.Phe163Leu) c.750C>A (p.Phe250Leu) n.908C>A | |
| 11 | g.17387343A>C | CA379771022 | KCNJ11 | c.488T>G (p.Phe163Cys) c.749T>G (p.Phe250Cys) n.907T>G | |
| 11 | g.17387343A>G | CA379771027 | KCNJ11 | c.488T>C (p.Phe163Ser) c.749T>C (p.Phe250Ser) n.907T>C | |
| 11 | g.17387343A>T | CA379771024 | KCNJ11 | c.488T>A (p.Phe163Tyr) c.749T>A (p.Phe250Tyr) n.907T>A | |
| 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 |