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 |
|---|---|---|---|---|---|
| 7 | g.150946814_150947018del | CA2697557661 | KCNH2 | n.4027_4163+68del c.3194_3330+68del c.2174_2310+68del c.2894_3030+68del c.3044_3180+68del c.3017_3153+68del | ClinVar |
| 7 | g.150946903_150946928delinsTGGGGAGGGGGCTGACGGGCAACAGC | CA1752427363 | KCNH2 | n.4112_4137delinsGCTGTTGCCCGTCAGCCCCCTCCCCA c.3279_3304delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1093=) c.2259_2284delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro753=) c.2979_3004delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro993=) c.3129_3154delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1043=) c.3102_3127delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1034=) | |
| 7 | g.150946909_150946933del | CA658656007 | KCNH2 | n.4112_4136del c.3279_3303del (p.Leu1094ProfsTer?) c.2259_2283del (p.Leu754ProfsTer?) c.2979_3003del (p.Leu994ProfsTer?) c.3129_3153del (p.Leu1044ProfsTer?) c.3102_3126del (p.Leu1035ProfsTer?) | ClinVar dbSNP |
| 7 | g.150946915_150946922del | CA2695208689 | KCNH2 | n.4122_4129del c.3289_3296del (p.Val1097ProfsTer19) c.2269_2276del (p.Val757ProfsTer19) c.2989_2996del (p.Val997ProfsTer19) c.3139_3146del (p.Val1047ProfsTer19) c.3112_3119del (p.Val1038ProfsTer19) | |
| 7 | g.150946917A= | CA1752427438 | KCNH2 | n.4123T= c.3290T= (p.Val1097=) c.2270T= (p.Val757=) c.2990T= (p.Val997=) c.3140T= (p.Val1047=) c.3113T= (p.Val1038=) | |
| 7 | g.150946917A>C | CA369852002 | KCNH2 | n.4123T>G c.3290T>G (p.Val1097Gly) c.2270T>G (p.Val757Gly) c.2990T>G (p.Val997Gly) c.3140T>G (p.Val1047Gly) c.3113T>G (p.Val1038Gly) | |
| 7 | g.150946917A>G | CA369852005 | KCNH2 | n.4123T>C c.3290T>C (p.Val1097Ala) c.2270T>C (p.Val757Ala) c.2990T>C (p.Val997Ala) c.3140T>C (p.Val1047Ala) c.3113T>C (p.Val1038Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150946917A>T | CA369852004 | KCNH2 | n.4123T>A c.3290T>A (p.Val1097Asp) c.2270T>A (p.Val757Asp) c.2990T>A (p.Val997Asp) c.3140T>A (p.Val1047Asp) c.3113T>A (p.Val1038Asp) | |
| 7 | g.150946917_150946918del | CA2685600624 | KCNH2 | n.4122_4123del c.3289_3290del (p.Val1097GlnfsTer21) c.2269_2270del (p.Val757GlnfsTer21) c.2989_2990del (p.Val997GlnfsTer21) c.3139_3140del (p.Val1047GlnfsTer21) c.3112_3113del (p.Val1038GlnfsTer21) | gnomAD v4 |
| 7 | g.150946918C>A | CA369852006 | KCNH2 | n.4122G>T c.3289G>T (p.Val1097Phe) c.2269G>T (p.Val757Phe) c.2989G>T (p.Val997Phe) c.3139G>T (p.Val1047Phe) c.3112G>T (p.Val1038Phe) | gnomAD v4 |
| 7 | g.150946918C= | CA1752427444 | KCNH2 | n.4122G= c.3289G= (p.Val1097=) c.2269G= (p.Val757=) c.2989G= (p.Val997=) c.3139G= (p.Val1047=) c.3112G= (p.Val1038=) | |
| 7 | g.150946918C>G | CA369852007 | KCNH2 | n.4122G>C c.3289G>C (p.Val1097Leu) c.2269G>C (p.Val757Leu) c.2989G>C (p.Val997Leu) c.3139G>C (p.Val1047Leu) c.3112G>C (p.Val1038Leu) | |
| 7 | g.150946918C>T | CA008165 | KCNH2 | n.4122G>A c.3289G>A (p.Val1097Ile) c.2269G>A (p.Val757Ile) c.2989G>A (p.Val997Ile) c.3139G>A (p.Val1047Ile) c.3112G>A (p.Val1038Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.150946919G>A | CA038260 | KCNH2 | n.4121C>T c.3288C>T (p.Pro1096=) c.2268C>T (p.Pro756=) c.2988C>T (p.Pro996=) c.3138C>T (p.Pro1046=) c.3111C>T (p.Pro1037=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150946919G>C | CA458644668 | KCNH2 | n.4121C>G c.3288C>G (p.Pro1096=) c.2268C>G (p.Pro756=) c.2988C>G (p.Pro996=) c.3138C>G (p.Pro1046=) c.3111C>G (p.Pro1037=) | |
| 7 | g.150946919G= | CA1752427450 | KCNH2 | n.4121C= c.3288C= (p.Pro1096=) c.2268C= (p.Pro756=) c.2988C= (p.Pro996=) c.3138C= (p.Pro1046=) c.3111C= (p.Pro1037=) | |
| 7 | g.150946919G>T | CA458644667 | KCNH2 | n.4121C>A c.3288C>A (p.Pro1096=) c.2268C>A (p.Pro756=) c.2988C>A (p.Pro996=) c.3138C>A (p.Pro1046=) c.3111C>A (p.Pro1037=) | |
| 7 | g.150946920_150946935dup | CA2580077682 | KCNH2 | n.4106_4121dup c.3273_3288dup (p.Val1097IlefsTer27) c.2253_2268dup (p.Val757IlefsTer27) c.2973_2988dup (p.Val997IlefsTer27) c.3123_3138dup (p.Val1047IlefsTer27) c.3096_3111dup (p.Val1038IlefsTer27) | ClinVar |
| 7 | g.150946920G>A | CA369852010 | KCNH2 | n.4120C>T c.3287C>T (p.Pro1096Leu) c.2267C>T (p.Pro756Leu) c.2987C>T (p.Pro996Leu) c.3137C>T (p.Pro1046Leu) c.3110C>T (p.Pro1037Leu) | gnomAD v4 |
| 7 | g.150946920G>C | CA369852012 | KCNH2 | n.4120C>G c.3287C>G (p.Pro1096Arg) c.2267C>G (p.Pro756Arg) c.2987C>G (p.Pro996Arg) c.3137C>G (p.Pro1046Arg) c.3110C>G (p.Pro1037Arg) | |
| 7 | g.150946920G>T | CA369852013 | KCNH2 | n.4120C>A c.3287C>A (p.Pro1096His) c.2267C>A (p.Pro756His) c.2987C>A (p.Pro996His) c.3137C>A (p.Pro1046His) c.3110C>A (p.Pro1037His) | |
| 7 | g.150946921G>A | CA369852015 | KCNH2 | n.4119C>T c.3286C>T (p.Pro1096Ser) c.2266C>T (p.Pro756Ser) c.2986C>T (p.Pro996Ser) c.3136C>T (p.Pro1046Ser) c.3109C>T (p.Pro1037Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150946921G>C | CA369852016 | KCNH2 | n.4119C>G c.3286C>G (p.Pro1096Ala) c.2266C>G (p.Pro756Ala) c.2986C>G (p.Pro996Ala) c.3136C>G (p.Pro1046Ala) c.3109C>G (p.Pro1037Ala) | |
| 7 | g.150946921G= | CA1752427456 | KCNH2 | n.4119C= c.3286C= (p.Pro1096=) c.2266C= (p.Pro756=) c.2986C= (p.Pro996=) c.3136C= (p.Pro1046=) c.3109C= (p.Pro1037=) | |
| 7 | g.150946921G>T | CA369852018 | KCNH2 | n.4119C>A c.3286C>A (p.Pro1096Thr) c.2266C>A (p.Pro756Thr) c.2986C>A (p.Pro996Thr) c.3136C>A (p.Pro1046Thr) c.3109C>A (p.Pro1037Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150946922C>A | CA369852020 | KCNH2 | n.4118G>T c.3285G>T (p.Leu1095Phe) c.2265G>T (p.Leu755Phe) c.2985G>T (p.Leu995Phe) c.3135G>T (p.Leu1045Phe) c.3108G>T (p.Leu1036Phe) | gnomAD v4 |
| 7 | g.150946922C= | CA1752427462 | KCNH2 | n.4118G= c.3285G= (p.Leu1095=) c.2265G= (p.Leu755=) c.2985G= (p.Leu995=) c.3135G= (p.Leu1045=) c.3108G= (p.Leu1036=) | |
| 7 | g.150946922C>G | CA369852021 | KCNH2 | n.4118G>C c.3285G>C (p.Leu1095Phe) c.2265G>C (p.Leu755Phe) c.2985G>C (p.Leu995Phe) c.3135G>C (p.Leu1045Phe) c.3108G>C (p.Leu1036Phe) | |
| 7 | g.150946922C>T | CA458644672 | KCNH2 | n.4118G>A c.3285G>A (p.Leu1095=) c.2265G>A (p.Leu755=) c.2985G>A (p.Leu995=) c.3135G>A (p.Leu1045=) c.3108G>A (p.Leu1036=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150946923A>C | CA369852026 | KCNH2 | n.4117T>G c.3284T>G (p.Leu1095Trp) c.2264T>G (p.Leu755Trp) c.2984T>G (p.Leu995Trp) c.3134T>G (p.Leu1045Trp) c.3107T>G (p.Leu1036Trp) | |
| 7 | g.150946923A>G | CA369852025 | KCNH2 | n.4117T>C c.3284T>C (p.Leu1095Ser) c.2264T>C (p.Leu755Ser) c.2984T>C (p.Leu995Ser) c.3134T>C (p.Leu1045Ser) c.3107T>C (p.Leu1036Ser) | |
| 7 | g.150946923A>T | CA369852023 | KCNH2 | n.4117T>A c.3284T>A (p.Leu1095Ter) c.2264T>A (p.Leu755Ter) c.2984T>A (p.Leu995Ter) c.3134T>A (p.Leu1045Ter) c.3107T>A (p.Leu1036Ter) | |
| 7 | g.150946924A>C | CA369852029 | KCNH2 | n.4116T>G c.3283T>G (p.Leu1095Val) c.2263T>G (p.Leu755Val) c.2983T>G (p.Leu995Val) c.3133T>G (p.Leu1045Val) c.3106T>G (p.Leu1036Val) | |
| 7 | g.150946924A>G | CA458644673 | KCNH2 | n.4116T>C c.3283T>C (p.Leu1095=) c.2263T>C (p.Leu755=) c.2983T>C (p.Leu995=) c.3133T>C (p.Leu1045=) c.3106T>C (p.Leu1036=) | |
| 7 | g.150946924A>T | CA369852028 | KCNH2 | n.4116T>A c.3283T>A (p.Leu1095Met) c.2263T>A (p.Leu755Met) c.2983T>A (p.Leu995Met) c.3133T>A (p.Leu1045Met) c.3106T>A (p.Leu1036Met) | |
| 7 | g.150946925C>A | CA458644674 | KCNH2 | n.4115G>T c.3282G>T (p.Leu1094=) c.2262G>T (p.Leu754=) c.2982G>T (p.Leu994=) c.3132G>T (p.Leu1044=) c.3105G>T (p.Leu1035=) | gnomAD v4 |
| 7 | g.150946925C>G | CA458644676 | KCNH2 | n.4115G>C c.3282G>C (p.Leu1094=) c.2262G>C (p.Leu754=) c.2982G>C (p.Leu994=) c.3132G>C (p.Leu1044=) c.3105G>C (p.Leu1035=) | ClinVar dbSNP |
| 7 | g.150946925C>T | CA458644675 | KCNH2 | n.4115G>A c.3282G>A (p.Leu1094=) c.2262G>A (p.Leu754=) c.2982G>A (p.Leu994=) c.3132G>A (p.Leu1044=) c.3105G>A (p.Leu1035=) | |
| 7 | g.150946926A>C | CA369852033 | KCNH2 | n.4114T>G c.3281T>G (p.Leu1094Arg) c.2261T>G (p.Leu754Arg) c.2981T>G (p.Leu994Arg) c.3131T>G (p.Leu1044Arg) c.3104T>G (p.Leu1035Arg) | |
| 7 | g.150946926A>G | CA369852031 | KCNH2 | n.4114T>C c.3281T>C (p.Leu1094Pro) c.2261T>C (p.Leu754Pro) c.2981T>C (p.Leu994Pro) c.3131T>C (p.Leu1044Pro) c.3104T>C (p.Leu1035Pro) | |
| 7 | g.150946926A>T | CA369852034 | KCNH2 | n.4114T>A c.3281T>A (p.Leu1094Gln) c.2261T>A (p.Leu754Gln) c.2981T>A (p.Leu994Gln) c.3131T>A (p.Leu1044Gln) c.3104T>A (p.Leu1035Gln) | |
| 7 | g.150946926dup | CA2739279284 | KCNH2 | n.4114dup c.3281dup (p.Leu1095ValfsTer24) c.2261dup (p.Leu755ValfsTer24) c.2981dup (p.Leu995ValfsTer24) c.3131dup (p.Leu1045ValfsTer24) c.3104dup (p.Leu1036ValfsTer24) | ClinVar |
| 7 | g.150946927G>A | CA458644677 | KCNH2 | n.4113C>T c.3280C>T (p.Leu1094=) c.2260C>T (p.Leu754=) c.2980C>T (p.Leu994=) c.3130C>T (p.Leu1044=) c.3103C>T (p.Leu1035=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150946927G>C | CA369852036 | KCNH2 | n.4113C>G c.3280C>G (p.Leu1094Val) c.2260C>G (p.Leu754Val) c.2980C>G (p.Leu994Val) c.3130C>G (p.Leu1044Val) c.3103C>G (p.Leu1035Val) | |
| 7 | g.150946927G= | CA1752427467 | KCNH2 | n.4113C= c.3280C= (p.Leu1094=) c.2260C= (p.Leu754=) c.2980C= (p.Leu994=) c.3130C= (p.Leu1044=) c.3103C= (p.Leu1035=) | |
| 7 | g.150946927G>T | CA038249 | KCNH2 | n.4113C>A c.3280C>A (p.Leu1094Met) c.2260C>A (p.Leu754Met) c.2980C>A (p.Leu994Met) c.3130C>A (p.Leu1044Met) c.3103C>A (p.Leu1035Met) | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 7 | g.150946927_150946928delinsGC | CA1752427470 | KCNH2 | n.4112_4113delinsGC c.3279_3280delinsGC (p.Pro1093=) c.2259_2260delinsGC (p.Pro753=) c.2979_2980delinsGC (p.Pro993=) c.3129_3130delinsGC (p.Pro1043=) c.3102_3103delinsGC (p.Pro1034=) | |
| 7 | g.150946927_150946928delinsTT | CA1139660327 | KCNH2 | n.4112_4113delinsAA c.3279_3280delinsAA (p.Leu1094Met) c.2259_2260delinsAA (p.Leu754Met) c.2979_2980delinsAA (p.Leu994Met) c.3129_3130delinsAA (p.Leu1044Met) c.3102_3103delinsAA (p.Leu1035Met) | ClinVar dbSNP |
| 7 | g.150946928C>A | CA169071242 | KCNH2 | n.4112G>T c.3279G>T (p.Pro1093=) c.2259G>T (p.Pro753=) c.2979G>T (p.Pro993=) c.3129G>T (p.Pro1043=) c.3102G>T (p.Pro1034=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150946928C= | CA1752427480 | KCNH2 | n.4112G= c.3279G= (p.Pro1093=) c.2259G= (p.Pro753=) c.2979G= (p.Pro993=) c.3129G= (p.Pro1043=) c.3102G= (p.Pro1034=) |