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.17387531C>A | CA473515467 | KCNJ11 | c.300G>T (p.Ala100=) c.561G>T (p.Ala187=) n.719G>T | |
| 11 | g.17387531C= | CA1955119300 | KCNJ11 | c.300G= (p.Ala100=) c.561G= (p.Ala187=) n.719G= | |
| 11 | g.17387531C>G | CA473515469 | KCNJ11 | c.300G>C (p.Ala100=) c.561G>C (p.Ala187=) n.719G>C | |
| 11 | g.17387531C>T | CA473515468 | KCNJ11 | c.300G>A (p.Ala100=) c.561G>A (p.Ala187=) n.719G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387532G>A | CA379772664 | KCNJ11 | c.299C>T (p.Ala100Val) c.560C>T (p.Ala187Val) n.718C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17387532G>C | CA379772673 | KCNJ11 | c.299C>G (p.Ala100Gly) c.560C>G (p.Ala187Gly) n.718C>G | |
| 11 | g.17387532G= | CA1955119301 | KCNJ11 | c.299C= (p.Ala100=) c.560C= (p.Ala187=) n.718C= | |
| 11 | g.17387532G>T | CA379772677 | KCNJ11 | c.299C>A (p.Ala100Glu) c.560C>A (p.Ala187Glu) n.718C>A | gnomAD v4 |
| 11 | g.17387533C>A | CA379772689 | KCNJ11 | c.298G>T (p.Ala100Ser) c.559G>T (p.Ala187Ser) n.717G>T | |
| 11 | g.17387533C= | CA1955119302 | KCNJ11 | c.298G= (p.Ala100=) c.559G= (p.Ala187=) n.717G= | |
| 11 | g.17387533C>G | CA379772692 | KCNJ11 | c.298G>C (p.Ala100Pro) c.559G>C (p.Ala187Pro) n.717G>C | |
| 11 | g.17387533C>T | CA379772684 | KCNJ11 | c.298G>A (p.Ala100Thr) c.559G>A (p.Ala187Thr) n.717G>A | dbSNP |
| 11 | g.17387534A= | CA1955119303 | KCNJ11 | c.297T= (p.His99=) c.558T= (p.His186=) n.716T= | |
| 11 | g.17387534A>C | CA379772696 | KCNJ11 | c.297T>G (p.His99Gln) c.558T>G (p.His186Gln) n.716T>G | |
| 11 | g.17387534A>G | CA473515471 | KCNJ11 | c.297T>C (p.His99=) c.558T>C (p.His186=) n.716T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387534A>T | CA379772699 | KCNJ11 | c.297T>A (p.His99Gln) c.558T>A (p.His186Gln) n.716T>A | |
| 11 | g.17387535T>A | CA379772703 | KCNJ11 | c.296A>T (p.His99Leu) c.557A>T (p.His186Leu) n.715A>T | |
| 11 | g.17387535T>C | CA379772706 | KCNJ11 | c.296A>G (p.His99Arg) c.557A>G (p.His186Arg) n.715A>G | |
| 11 | g.17387535T>G | CA379772710 | KCNJ11 | c.296A>C (p.His99Pro) c.557A>C (p.His186Pro) n.715A>C | |
| 11 | g.17387536G>A | CA379772721 | KCNJ11 | c.295C>T (p.His99Tyr) c.556C>T (p.His186Tyr) n.714C>T | ClinVar gnomAD v4 |
| 11 | g.17387536G>C | CA379772714 | KCNJ11 | c.295C>G (p.His99Asp) c.556C>G (p.His186Asp) n.714C>G | ClinVar dbSNP |
| 11 | g.17387536G>T | CA379772720 | KCNJ11 | c.295C>A (p.His99Asn) c.556C>A (p.His186Asn) n.714C>A | gnomAD v4 |
| 11 | g.17387537C>A | CA379772722 | KCNJ11 | c.294G>T (p.Lys98Asn) c.555G>T (p.Lys185Asn) n.713G>T | |
| 11 | g.17387537C>G | CA379772723 | KCNJ11 | c.294G>C (p.Lys98Asn) c.555G>C (p.Lys185Asn) n.713G>C | |
| 11 | g.17387537C>T | CA473515472 | KCNJ11 | c.294G>A (p.Lys98=) c.555G>A (p.Lys185=) n.713G>A | |
| 11 | g.17387538T>A | CA379772726 | KCNJ11 | c.293A>T (p.Lys98Met) c.554A>T (p.Lys185Met) n.712A>T | |
| 11 | g.17387538T>C | CA379772729 | KCNJ11 | c.293A>G (p.Lys98Arg) c.554A>G (p.Lys185Arg) n.712A>G | |
| 11 | g.17387538T>G | CA379772730 | KCNJ11 | c.293A>C (p.Lys98Thr) c.554A>C (p.Lys185Thr) n.712A>C | |
| 11 | g.17387539T>A | CA379772737 | KCNJ11 | c.292A>T (p.Lys98Ter) c.553A>T (p.Lys185Ter) n.711A>T | |
| 11 | g.17387539T>C | CA379772734 | KCNJ11 | c.292A>G (p.Lys98Glu) c.553A>G (p.Lys185Glu) n.711A>G | |
| 11 | g.17387539T>G | CA379772731 | KCNJ11 | c.292A>C (p.Lys98Gln) c.553A>C (p.Lys185Gln) n.711A>C | |
| 11 | g.17387540G>A | CA473515476 | KCNJ11 | c.291C>T (p.Ser97=) c.552C>T (p.Ser184=) n.710C>T | ClinVar gnomAD v4 |
| 11 | g.17387540G>C | CA379772741 | KCNJ11 | c.291C>G (p.Ser97Arg) c.552C>G (p.Ser184Arg) n.710C>G | |
| 11 | g.17387540G>T | CA379772744 | KCNJ11 | c.291C>A (p.Ser97Arg) c.552C>A (p.Ser184Arg) n.710C>A | |
| 11 | g.17387541C>A | CA379772751 | KCNJ11 | c.290G>T (p.Ser97Ile) c.551G>T (p.Ser184Ile) n.709G>T | |
| 11 | g.17387541C>G | CA379772753 | KCNJ11 | c.290G>C (p.Ser97Thr) c.551G>C (p.Ser184Thr) n.709G>C | |
| 11 | g.17387541C>T | CA379772763 | KCNJ11 | c.290G>A (p.Ser97Asn) c.551G>A (p.Ser184Asn) n.709G>A | |
| 11 | g.17387542T>A | CA379772770 | KCNJ11 | c.289A>T (p.Ser97Cys) c.550A>T (p.Ser184Cys) n.708A>T | |
| 11 | g.17387542T>C | CA379772773 | KCNJ11 | c.289A>G (p.Ser97Gly) c.550A>G (p.Ser184Gly) n.708A>G | |
| 11 | g.17387542T>G | CA379772774 | KCNJ11 | c.289A>C (p.Ser97Arg) c.550A>C (p.Ser184Arg) n.708A>C | |
| 11 | g.17387543G>A | CA473515480 | KCNJ11 | c.288C>T (p.Phe96=) c.549C>T (p.Phe183=) n.707C>T | |
| 11 | g.17387543G>C | CA379772775 | KCNJ11 | c.288C>G (p.Phe96Leu) c.549C>G (p.Phe183Leu) n.707C>G | |
| 11 | g.17387543G>T | CA379772776 | KCNJ11 | c.288C>A (p.Phe96Leu) c.549C>A (p.Phe183Leu) n.707C>A | gnomAD v4 |
| 11 | g.17387544A>C | CA379772780 | KCNJ11 | c.287T>G (p.Phe96Cys) c.548T>G (p.Phe183Cys) n.706T>G | |
| 11 | g.17387544A>G | CA379772784 | KCNJ11 | c.287T>C (p.Phe96Ser) c.548T>C (p.Phe183Ser) n.706T>C | |
| 11 | g.17387544A>T | CA379772792 | KCNJ11 | c.287T>A (p.Phe96Tyr) c.548T>A (p.Phe183Tyr) n.706T>A | |
| 11 | g.17387545A>C | CA379772807 | KCNJ11 | c.286T>G (p.Phe96Val) c.547T>G (p.Phe183Val) n.705T>G | |
| 11 | g.17387545A>G | CA379772805 | KCNJ11 | c.286T>C (p.Phe96Leu) c.547T>C (p.Phe183Leu) n.705T>C | |
| 11 | g.17387545A>T | CA379772799 | KCNJ11 | c.286T>A (p.Phe96Ile) c.547T>A (p.Phe183Ile) n.705T>A | |
| 11 | g.17387546G>A | CA473515485 | KCNJ11 | c.285C>T (p.Ile95=) c.546C>T (p.Ile182=) n.704C>T |