WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150958420_150958453del | CA2695208647 | KCNH2 | n.1358_1391del c.525_558del (p.Arg176AlafsTer14) c.235-58_235-25del (n.235-58_235-25del) n.748_781del c.225_258del (p.Arg76AlafsTer14) c.375_408del (p.Arg126AlafsTer14) c.348_381del (p.Arg117AlafsTer14) | |
| 7 | g.150958423_150958435del | CA2499218814 | KCNH2 | n.1377_1389del c.544_556del (p.Ser182AlafsTer15) c.235-39_235-27del (n.235-39_235-27del) n.767_779del c.244_256del (p.Ser82AlafsTer15) c.394_406del (p.Ser132AlafsTer15) c.367_379del (p.Ser123AlafsTer15) | ClinVar dbSNP |
| 7 | g.150958428_150958435dup | CA658797049 | KCNH2 | n.1377_1384dup c.544_551dup (p.Ala185ArgfsTer19) c.235-39_235-32dup (n.235-39_235-32dup) n.767_774dup c.244_251dup (p.Ala85ArgfsTer19) c.394_401dup (p.Ala135ArgfsTer19) c.367_374dup (p.Ala126ArgfsTer19) | ClinVar dbSNP |
| 7 | g.150958431A>C | CA369863368 | KCNH2 | n.1377T>G c.544T>G (p.Ser182Ala) c.235-39T>G (n.235-39T>G) n.767T>G c.244T>G (p.Ser82Ala) c.394T>G (p.Ser132Ala) c.367T>G (p.Ser123Ala) | |
| 7 | g.150958431A>G | CA369863364 | KCNH2 | n.1377T>C c.544T>C (p.Ser182Pro) c.235-39T>C (n.235-39T>C) n.767T>C c.244T>C (p.Ser82Pro) c.394T>C (p.Ser132Pro) c.367T>C (p.Ser123Pro) | |
| 7 | g.150958431A>T | CA369863365 | KCNH2 | n.1377T>A c.544T>A (p.Ser182Thr) c.235-39T>A (n.235-39T>A) n.767T>A c.244T>A (p.Ser82Thr) c.394T>A (p.Ser132Thr) c.367T>A (p.Ser123Thr) | |
| 7 | g.150958431_150958438dup | CA658797050 | KCNH2 | n.1370_1377dup c.537_544dup (p.Ser182TrpfsTer22) c.235-46_235-39dup (n.235-46_235-39dup) n.760_767dup c.237_244dup (p.Ser82TrpfsTer22) c.387_394dup (p.Ser132TrpfsTer22) c.360_367dup (p.Ser123TrpfsTer22) | ClinVar dbSNP |
| 7 | g.150958432C>A | CA458646813 | KCNH2 | n.1376G>T c.543G>T (p.Arg181=) c.235-40G>T (n.235-40G>T) n.766G>T c.243G>T (p.Arg81=) c.393G>T (p.Arg131=) c.366G>T (p.Arg122=) | gnomAD v4 |
| 7 | g.150958432C>G | CA458646814 | KCNH2 | n.1376G>C c.543G>C (p.Arg181=) c.235-40G>C (n.235-40G>C) n.766G>C c.243G>C (p.Arg81=) c.393G>C (p.Arg131=) c.366G>C (p.Arg122=) | |
| 7 | g.150958432C>T | CA458646815 | KCNH2 | n.1376G>A c.543G>A (p.Arg181=) c.235-40G>A (n.235-40G>A) n.766G>A c.243G>A (p.Arg81=) c.393G>A (p.Arg131=) c.366G>A (p.Arg122=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958433_150958434insCCC | CA1139770392 | KCNH2 | n.1376_1377insGGG c.543_544insGGG (p.Arg181_Ser182insGly) c.235-40_235-39insGGG (n.235-40_235-39insGGG) n.766_767insGGG c.243_244insGGG (p.Arg81_Ser82insGly) c.393_394insGGG (p.Arg131_Ser132insGly) c.366_367insGGG (p.Arg122_Ser123insGly) | |
| 7 | g.150958433C>A | CA369863370 | KCNH2 | n.1375G>T c.542G>T (p.Arg181Leu) c.235-41G>T (n.235-41G>T) n.765G>T c.242G>T (p.Arg81Leu) c.392G>T (p.Arg131Leu) c.365G>T (p.Arg122Leu) | gnomAD v4 |
| 7 | g.150958433C= | CA1752418697 | KCNH2 | n.1375G= c.542G= (p.Arg181=) c.235-41G= (n.235-41G=) n.765G= c.242G= (p.Arg81=) c.392G= (p.Arg131=) c.365G= (p.Arg122=) | |
| 7 | g.150958433C>G | CA369863372 | KCNH2 | n.1375G>C c.542G>C (p.Arg181Pro) c.235-41G>C (n.235-41G>C) n.765G>C c.242G>C (p.Arg81Pro) c.392G>C (p.Arg131Pro) c.365G>C (p.Arg122Pro) | ClinVar gnomAD v4 |
| 7 | g.150958433C>T | CA008563 | KCNH2 | n.1375G>A c.542G>A (p.Arg181Gln) c.235-41G>A (n.235-41G>A) n.765G>A c.242G>A (p.Arg81Gln) c.392G>A (p.Arg131Gln) c.365G>A (p.Arg122Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958434G>A | CA369863375 | KCNH2 | n.1374C>T c.541C>T (p.Arg181Trp) c.235-42C>T (n.235-42C>T) n.764C>T c.241C>T (p.Arg81Trp) c.391C>T (p.Arg131Trp) c.364C>T (p.Arg122Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958434G>C | CA369863376 | KCNH2 | n.1374C>G c.541C>G (p.Arg181Gly) c.235-42C>G (n.235-42C>G) n.764C>G c.241C>G (p.Arg81Gly) c.391C>G (p.Arg131Gly) c.364C>G (p.Arg122Gly) | gnomAD v4 |
| 7 | g.150958434G= | CA1752418700 | KCNH2 | n.1374C= c.541C= (p.Arg181=) c.235-42C= (n.235-42C=) n.764C= c.241C= (p.Arg81=) c.391C= (p.Arg131=) c.364C= (p.Arg122=) | |
| 7 | g.150958434G>T | CA458646816 | KCNH2 | n.1374C>A c.541C>A (p.Arg181=) c.235-42C>A (n.235-42C>A) n.764C>A c.241C>A (p.Arg81=) c.391C>A (p.Arg131=) c.364C>A (p.Arg122=) | gnomAD v4 |
| 7 | g.150958435C>A | CA458646817 | KCNH2 | n.1373G>T c.540G>T (p.Val180=) c.235-43G>T (n.235-43G>T) n.763G>T c.240G>T (p.Val80=) c.390G>T (p.Val130=) c.363G>T (p.Val121=) | gnomAD v4 |
| 7 | g.150958435C= | CA1752418702 | KCNH2 | n.1373G= c.540G= (p.Val180=) c.235-43G= (n.235-43G=) n.763G= c.240G= (p.Val80=) c.390G= (p.Val130=) c.363G= (p.Val121=) | |
| 7 | g.150958435C>G | CA458646819 | KCNH2 | n.1373G>C c.540G>C (p.Val180=) c.235-43G>C (n.235-43G>C) n.763G>C c.240G>C (p.Val80=) c.390G>C (p.Val130=) c.363G>C (p.Val121=) | |
| 7 | g.150958435C>T | CA458646818 | KCNH2 | n.1373G>A c.540G>A (p.Val180=) c.235-43G>A (n.235-43G>A) n.763G>A c.240G>A (p.Val80=) c.390G>A (p.Val130=) c.363G>A (p.Val121=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958436A>C | CA369863378 | KCNH2 | n.1372T>G c.539T>G (p.Val180Gly) c.235-44T>G (n.235-44T>G) n.762T>G c.239T>G (p.Val80Gly) c.389T>G (p.Val130Gly) c.362T>G (p.Val121Gly) | |
| 7 | g.150958436A>G | CA369863380 | KCNH2 | n.1372T>C c.539T>C (p.Val180Ala) c.235-44T>C (n.235-44T>C) n.762T>C c.239T>C (p.Val80Ala) c.389T>C (p.Val130Ala) c.362T>C (p.Val121Ala) | gnomAD v4 |
| 7 | g.150958436A>T | CA369863382 | KCNH2 | n.1372T>A c.539T>A (p.Val180Glu) c.235-44T>A (n.235-44T>A) n.762T>A c.239T>A (p.Val80Glu) c.389T>A (p.Val130Glu) c.362T>A (p.Val121Glu) | |
| 7 | g.150958437C>A | CA369863384 | KCNH2 | n.1371G>T c.538G>T (p.Val180Leu) c.235-45G>T (n.235-45G>T) n.761G>T c.238G>T (p.Val80Leu) c.388G>T (p.Val130Leu) c.361G>T (p.Val121Leu) | |
| 7 | g.150958437C>G | CA369863386 | KCNH2 | n.1371G>C c.538G>C (p.Val180Leu) c.235-45G>C (n.235-45G>C) n.761G>C c.238G>C (p.Val80Leu) c.388G>C (p.Val130Leu) c.361G>C (p.Val121Leu) | |
| 7 | g.150958437C>T | CA369863388 | KCNH2 | n.1371G>A c.538G>A (p.Val180Met) c.235-45G>A (n.235-45G>A) n.761G>A c.238G>A (p.Val80Met) c.388G>A (p.Val130Met) c.361G>A (p.Val121Met) | gnomAD v4 |
| 7 | g.150958438C>A | CA458646820 | KCNH2 | n.1370G>T c.537G>T (p.Ser179=) c.235-46G>T (n.235-46G>T) n.760G>T c.237G>T (p.Ser79=) c.387G>T (p.Ser129=) c.360G>T (p.Ser120=) | gnomAD v4 |
| 7 | g.150958438C>G | CA458646821 | KCNH2 | n.1370G>C c.537G>C (p.Ser179=) c.235-46G>C (n.235-46G>C) n.760G>C c.237G>C (p.Ser79=) c.387G>C (p.Ser129=) c.360G>C (p.Ser120=) | |
| 7 | g.150958438C>T | CA458646822 | KCNH2 | n.1370G>A c.537G>A (p.Ser179=) c.235-46G>A (n.235-46G>A) n.760G>A c.237G>A (p.Ser79=) c.387G>A (p.Ser129=) c.360G>A (p.Ser120=) | ClinVar gnomAD v4 |
| 7 | g.150958438_150958463delinsCGACGACTCCCGGGCCGTCAGCGCCA | CA1752418705 | KCNH2 | n.1345_1370delinsTGGCGCTGACGGCCCGGGAGTCGTCG c.512_537delinsTGGCGCTGACGGCCCGGGAGTCGTCG (p.Leu171=) c.235-71_235-46delinsTGGCGCTGACGGCCCGGGAGTCGTCG (n.235-71_235-46delinsTGGCGCTGACGGCCCGGGAGTCGTCG) n.735_760delinsTGGCGCTGACGGCCCGGGAGTCGTCG c.212_237delinsTGGCGCTGACGGCCCGGGAGTCGTCG (p.Leu71=) c.362_387delinsTGGCGCTGACGGCCCGGGAGTCGTCG (p.Leu121=) c.335_360delinsTGGCGCTGACGGCCCGGGAGTCGTCG (p.Leu112=) | |
| 7 | g.150958439G>A | CA369863394 | KCNH2 | n.1369C>T c.536C>T (p.Ser179Leu) c.235-47C>T (n.235-47C>T) n.759C>T c.236C>T (p.Ser79Leu) c.386C>T (p.Ser129Leu) c.359C>T (p.Ser120Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958439G>C | CA369863390 | KCNH2 | n.1369C>G c.536C>G (p.Ser179Trp) c.235-47C>G (n.235-47C>G) n.759C>G c.236C>G (p.Ser79Trp) c.386C>G (p.Ser129Trp) c.359C>G (p.Ser120Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958439G= | CA1752418709 | KCNH2 | n.1369C= c.536C= (p.Ser179=) c.235-47C= (n.235-47C=) n.759C= c.236C= (p.Ser79=) c.386C= (p.Ser129=) c.359C= (p.Ser120=) | |
| 7 | g.150958439G>T | CA369863392 | KCNH2 | n.1369C>A c.536C>A (p.Ser179Ter) c.235-47C>A (n.235-47C>A) n.759C>A c.236C>A (p.Ser79Ter) c.386C>A (p.Ser129Ter) c.359C>A (p.Ser120Ter) | gnomAD v4 |
| 7 | g.150958440_150958464del | CA658797051 | KCNH2 | n.1345_1369del c.512_536del (p.Leu171ArgfsTer22) c.235-71_235-47del (n.235-71_235-47del) n.735_759del c.212_236del (p.Leu71ArgfsTer22) c.362_386del (p.Leu121ArgfsTer22) c.335_359del (p.Leu112ArgfsTer22) | ClinVar dbSNP |
| 7 | g.150958440A>C | CA369863396 | KCNH2 | n.1368T>G c.535T>G (p.Ser179Ala) c.235-48T>G (n.235-48T>G) n.758T>G c.235T>G (p.Ser79Ala) c.385T>G (p.Ser129Ala) c.358T>G (p.Ser120Ala) | ClinVar dbSNP |
| 7 | g.150958440A>G | CA369863398 | KCNH2 | n.1368T>C c.535T>C (p.Ser179Pro) c.235-48T>C (n.235-48T>C) n.758T>C c.235T>C (p.Ser79Pro) c.385T>C (p.Ser129Pro) c.358T>C (p.Ser120Pro) | gnomAD v4 |
| 7 | g.150958440A>T | CA369863400 | KCNH2 | n.1368T>A c.535T>A (p.Ser179Thr) c.235-48T>A (n.235-48T>A) n.758T>A c.235T>A (p.Ser79Thr) c.385T>A (p.Ser129Thr) c.358T>A (p.Ser120Thr) | |
| 7 | g.150958441C>A | CA458646823 | KCNH2 | n.1367G>T c.534G>T (p.Ser178=) c.235-49G>T (n.235-49G>T) n.757G>T c.234G>T (p.Ser78=) c.384G>T (p.Ser128=) c.357G>T (p.Ser119=) | ClinVar gnomAD v4 |
| 7 | g.150958441C= | CA1752418712 | KCNH2 | n.1367G= c.534G= (p.Ser178=) c.235-49G= (n.235-49G=) n.757G= c.234G= (p.Ser78=) c.384G= (p.Ser128=) c.357G= (p.Ser119=) | |
| 7 | g.150958441C>G | CA169081479 | KCNH2 | n.1367G>C c.534G>C (p.Ser178=) c.235-49G>C (n.235-49G>C) n.757G>C c.234G>C (p.Ser78=) c.384G>C (p.Ser128=) c.357G>C (p.Ser119=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150958441C>T | CA458646824 | KCNH2 | n.1367G>A c.534G>A (p.Ser178=) c.235-49G>A (n.235-49G>A) n.757G>A c.234G>A (p.Ser78=) c.384G>A (p.Ser128=) c.357G>A (p.Ser119=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958442G>A | CA369863402 | KCNH2 | n.1366C>T c.533C>T (p.Ser178Leu) c.235-50C>T (n.235-50C>T) n.756C>T c.233C>T (p.Ser78Leu) c.383C>T (p.Ser128Leu) c.356C>T (p.Ser119Leu) | gnomAD v4 |
| 7 | g.150958442G>C | CA369863403 | KCNH2 | n.1366C>G c.533C>G (p.Ser178Trp) c.235-50C>G (n.235-50C>G) n.756C>G c.233C>G (p.Ser78Trp) c.383C>G (p.Ser128Trp) c.356C>G (p.Ser119Trp) | |
| 7 | g.150958442G>T | CA369863405 | KCNH2 | n.1366C>A c.533C>A (p.Ser178Ter) c.235-50C>A (n.235-50C>A) n.756C>A c.233C>A (p.Ser78Ter) c.383C>A (p.Ser128Ter) c.356C>A (p.Ser119Ter) | gnomAD v4 |
| 7 | g.150958443A>C | CA369863406 | KCNH2 | n.1365T>G c.532T>G (p.Ser178Ala) c.235-51T>G (n.235-51T>G) n.755T>G c.232T>G (p.Ser78Ala) c.382T>G (p.Ser128Ala) c.355T>G (p.Ser119Ala) | |
| 7 | g.150958443A>G | CA369863408 | KCNH2 | n.1365T>C c.532T>C (p.Ser178Pro) c.235-51T>C (n.235-51T>C) n.755T>C c.232T>C (p.Ser78Pro) c.382T>C (p.Ser128Pro) c.355T>C (p.Ser119Pro) | ClinVar |