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.150947163_150948277del | CA1139660328 | KCNH2 | n.3525+167_3986-109del c.2692+167_3153-109del c.1672+167_2133-109del c.2392+167_2853-109del c.2542+167_3003-109del c.2515+167_2976-109del | ClinVar |
| 7 | g.150947372_150953685dup | CA2580614280 | KCNH2 | n.1962-831_3942dup c.1129-831_3109dup c.109-831_2089dup c.829-831_2809dup c.979-831_2959dup c.952-831_2932dup | |
| 7 | g.150947391_150947665dup | CA645372846 | KCNH2 | n.3740_3923dup c.2907_3090dup c.1887_2070dup c.2607_2790dup c.2757_2940dup c.2730_2913dup | ClinVar |
| 7 | g.150947491T>A | CA369852974 | KCNH2 | n.3822A>T c.2989A>T (p.Ile997Phe) c.1969A>T (p.Ile657Phe) c.2689A>T (p.Ile897Phe) c.*69A>T (n.*69A>T) c.2839A>T (p.Ile947Phe) c.2812A>T (p.Ile938Phe) | |
| 7 | g.150947491T>C | CA369852975 | KCNH2 | n.3822A>G c.2989A>G (p.Ile997Val) c.1969A>G (p.Ile657Val) c.2689A>G (p.Ile897Val) c.*69A>G (n.*69A>G) c.2839A>G (p.Ile947Val) c.2812A>G (p.Ile938Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947491T>G | CA369852976 | KCNH2 | n.3822A>C c.2989A>C (p.Ile997Leu) c.1969A>C (p.Ile657Leu) c.2689A>C (p.Ile897Leu) c.*69A>C (n.*69A>C) c.2839A>C (p.Ile947Leu) c.2812A>C (p.Ile938Leu) | |
| 7 | g.150947491T= | CA1752429452 | KCNH2 | n.3822A= c.2989A= (p.Ile997=) c.1969A= (p.Ile657=) c.2689A= (p.Ile897=) c.*69A= (n.*69A=) c.2839A= (p.Ile947=) c.2812A= (p.Ile938=) | |
| 7 | g.150947492G>A | CA036219 | KCNH2 | n.3821C>T c.2988C>T (p.Asn996=) c.1968C>T (p.Asn656=) c.2688C>T (p.Asn896=) c.*68C>T (n.*68C>T) c.2838C>T (p.Asn946=) c.2811C>T (p.Asn937=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150947492G>C | CA369852977 | KCNH2 | n.3821C>G c.2988C>G (p.Asn996Lys) c.1968C>G (p.Asn656Lys) c.2688C>G (p.Asn896Lys) c.*68C>G (n.*68C>G) c.2838C>G (p.Asn946Lys) c.2811C>G (p.Asn937Lys) | |
| 7 | g.150947492G= | CA1752429457 | KCNH2 | n.3821C= c.2988C= (p.Asn996=) c.1968C= (p.Asn656=) c.2688C= (p.Asn896=) c.*68C= (n.*68C=) c.2838C= (p.Asn946=) c.2811C= (p.Asn937=) | |
| 7 | g.150947492G>T | CA369852978 | KCNH2 | n.3821C>A c.2988C>A (p.Asn996Lys) c.1968C>A (p.Asn656Lys) c.2688C>A (p.Asn896Lys) c.*68C>A (n.*68C>A) c.2838C>A (p.Asn946Lys) c.2811C>A (p.Asn937Lys) | gnomAD v4 |
| 7 | g.150947493T>A | CA007728 | KCNH2 | n.3820A>T c.2987A>T (p.Asn996Ile) c.1967A>T (p.Asn656Ile) c.2687A>T (p.Asn896Ile) c.*67A>T (n.*67A>T) c.2837A>T (p.Asn946Ile) c.2810A>T (p.Asn937Ile) | ClinVar dbSNP |
| 7 | g.150947493T>C | CA369852979 | KCNH2 | n.3820A>G c.2987A>G (p.Asn996Ser) c.1967A>G (p.Asn656Ser) c.2687A>G (p.Asn896Ser) c.*67A>G (n.*67A>G) c.2837A>G (p.Asn946Ser) c.2810A>G (p.Asn937Ser) | ClinVar dbSNP |
| 7 | g.150947493T>G | CA369852980 | KCNH2 | n.3820A>C c.2987A>C (p.Asn996Thr) c.1967A>C (p.Asn656Thr) c.2687A>C (p.Asn896Thr) c.*67A>C (n.*67A>C) c.2837A>C (p.Asn946Thr) c.2810A>C (p.Asn937Thr) | |
| 7 | g.150947493T= | CA1752429460 | KCNH2 | n.3820A= c.2987A= (p.Asn996=) c.1967A= (p.Asn656=) c.2687A= (p.Asn896=) c.*67A= (n.*67A=) c.2837A= (p.Asn946=) c.2810A= (p.Asn937=) | |
| 7 | g.150947494T>A | CA369852981 | KCNH2 | n.3819A>T c.2986A>T (p.Asn996Tyr) c.1966A>T (p.Asn656Tyr) c.2686A>T (p.Asn896Tyr) c.*66A>T (n.*66A>T) c.2836A>T (p.Asn946Tyr) c.2809A>T (p.Asn937Tyr) | |
| 7 | g.150947494T>C | CA369852982 | KCNH2 | n.3819A>G c.2986A>G (p.Asn996Asp) c.1966A>G (p.Asn656Asp) c.2686A>G (p.Asn896Asp) c.*66A>G (n.*66A>G) c.2836A>G (p.Asn946Asp) c.2809A>G (p.Asn937Asp) | gnomAD v4 |
| 7 | g.150947494T>G | CA369852983 | KCNH2 | n.3819A>C c.2986A>C (p.Asn996His) c.1966A>C (p.Asn656His) c.2686A>C (p.Asn896His) c.*66A>C (n.*66A>C) c.2836A>C (p.Asn946His) c.2809A>C (p.Asn937His) | |
| 7 | g.150947495G>A | CA458644952 | KCNH2 | n.3818C>T c.2985C>T (p.Ser995=) c.1965C>T (p.Ser655=) c.2685C>T (p.Ser895=) c.*65C>T (n.*65C>T) c.2835C>T (p.Ser945=) c.2808C>T (p.Ser936=) | gnomAD v4 |
| 7 | g.150947495G>C | CA458644953 | KCNH2 | n.3818C>G c.2985C>G (p.Ser995=) c.1965C>G (p.Ser655=) c.2685C>G (p.Ser895=) c.*65C>G (n.*65C>G) c.2835C>G (p.Ser945=) c.2808C>G (p.Ser936=) | dbSNP gnomAD v2 |
| 7 | g.150947495G= | CA1752429466 | KCNH2 | n.3818C= c.2985C= (p.Ser995=) c.1965C= (p.Ser655=) c.2685C= (p.Ser895=) c.*65C= (n.*65C=) c.2835C= (p.Ser945=) c.2808C= (p.Ser936=) | |
| 7 | g.150947495G>T | CA458644954 | KCNH2 | n.3818C>A c.2985C>A (p.Ser995=) c.1965C>A (p.Ser655=) c.2685C>A (p.Ser895=) c.*65C>A (n.*65C>A) c.2835C>A (p.Ser945=) c.2808C>A (p.Ser936=) | gnomAD v4 |
| 7 | g.150947496G>A | CA369852984 | KCNH2 | n.3817C>T c.2984C>T (p.Ser995Phe) c.1964C>T (p.Ser655Phe) c.2684C>T (p.Ser895Phe) c.*64C>T (n.*64C>T) c.2834C>T (p.Ser945Phe) c.2807C>T (p.Ser936Phe) | |
| 7 | g.150947496G>C | CA369852985 | KCNH2 | n.3817C>G c.2984C>G (p.Ser995Cys) c.1964C>G (p.Ser655Cys) c.2684C>G (p.Ser895Cys) c.*64C>G (n.*64C>G) c.2834C>G (p.Ser945Cys) c.2807C>G (p.Ser936Cys) | |
| 7 | g.150947496G>T | CA369852986 | KCNH2 | n.3817C>A c.2984C>A (p.Ser995Tyr) c.1964C>A (p.Ser655Tyr) c.2684C>A (p.Ser895Tyr) c.*64C>A (n.*64C>A) c.2834C>A (p.Ser945Tyr) c.2807C>A (p.Ser936Tyr) | ClinVar dbSNP |
| 7 | g.150947497A>C | CA369852987 | KCNH2 | n.3816T>G c.2983T>G (p.Ser995Ala) c.1963T>G (p.Ser655Ala) c.2683T>G (p.Ser895Ala) c.*63T>G (n.*63T>G) c.2833T>G (p.Ser945Ala) c.2806T>G (p.Ser936Ala) | |
| 7 | g.150947497A>G | CA369852988 | KCNH2 | n.3816T>C c.2983T>C (p.Ser995Pro) c.1963T>C (p.Ser655Pro) c.2683T>C (p.Ser895Pro) c.*63T>C (n.*63T>C) c.2833T>C (p.Ser945Pro) c.2806T>C (p.Ser936Pro) | gnomAD v4 |
| 7 | g.150947497A>T | CA369852989 | KCNH2 | n.3816T>A c.2983T>A (p.Ser995Thr) c.1963T>A (p.Ser655Thr) c.2683T>A (p.Ser895Thr) c.*63T>A (n.*63T>A) c.2833T>A (p.Ser945Thr) c.2806T>A (p.Ser936Thr) | |
| 7 | g.150947498C>A | CA458644955 | KCNH2 | n.3815G>T c.2982G>T (p.Val994=) c.1962G>T (p.Val654=) c.2682G>T (p.Val894=) c.*62G>T (n.*62G>T) c.2832G>T (p.Val944=) c.2805G>T (p.Val935=) | gnomAD v4 |
| 7 | g.150947498C= | CA1752429468 | KCNH2 | n.3815G= c.2982G= (p.Val994=) c.1962G= (p.Val654=) c.2682G= (p.Val894=) c.*62G= (n.*62G=) c.2832G= (p.Val944=) c.2805G= (p.Val935=) | |
| 7 | g.150947498C>G | CA458644956 | KCNH2 | n.3815G>C c.2982G>C (p.Val994=) c.1962G>C (p.Val654=) c.2682G>C (p.Val894=) c.*62G>C (n.*62G>C) c.2832G>C (p.Val944=) c.2805G>C (p.Val935=) | |
| 7 | g.150947498C>T | CA458644957 | KCNH2 | n.3815G>A c.2982G>A (p.Val994=) c.1962G>A (p.Val654=) c.2682G>A (p.Val894=) c.*62G>A (n.*62G>A) c.2832G>A (p.Val944=) c.2805G>A (p.Val935=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947499A>C | CA369852990 | KCNH2 | n.3814T>G c.2981T>G (p.Val994Gly) c.1961T>G (p.Val654Gly) c.2681T>G (p.Val894Gly) c.*61T>G (n.*61T>G) c.2831T>G (p.Val944Gly) c.2804T>G (p.Val935Gly) | gnomAD v4 |
| 7 | g.150947499A>G | CA369852991 | KCNH2 | n.3814T>C c.2981T>C (p.Val994Ala) c.1961T>C (p.Val654Ala) c.2681T>C (p.Val894Ala) c.*61T>C (n.*61T>C) c.2831T>C (p.Val944Ala) c.2804T>C (p.Val935Ala) | gnomAD v4 |
| 7 | g.150947499A>T | CA369852992 | KCNH2 | n.3814T>A c.2981T>A (p.Val994Glu) c.1961T>A (p.Val654Glu) c.2681T>A (p.Val894Glu) c.*61T>A (n.*61T>A) c.2831T>A (p.Val944Glu) c.2804T>A (p.Val935Glu) | |
| 7 | g.150947500C>A | CA369852994 | KCNH2 | n.3813G>T c.2980G>T (p.Val994Leu) c.1960G>T (p.Val654Leu) c.2680G>T (p.Val894Leu) c.*60G>T (n.*60G>T) c.2830G>T (p.Val944Leu) c.2803G>T (p.Val935Leu) | gnomAD v4 |
| 7 | g.150947500C>G | CA369852995 | KCNH2 | n.3813G>C c.2980G>C (p.Val994Leu) c.1960G>C (p.Val654Leu) c.2680G>C (p.Val894Leu) c.*60G>C (n.*60G>C) c.2830G>C (p.Val944Leu) c.2803G>C (p.Val935Leu) | |
| 7 | g.150947500C>T | CA369852993 | KCNH2 | n.3813G>A c.2980G>A (p.Val994Met) c.1960G>A (p.Val654Met) c.2680G>A (p.Val894Met) c.*60G>A (n.*60G>A) c.2830G>A (p.Val944Met) c.2803G>A (p.Val935Met) | gnomAD v4 |
| 7 | g.150947501T>A | CA458644958 | KCNH2 | n.3812A>T c.2979A>T (p.Gly993=) c.1959A>T (p.Gly653=) c.2679A>T (p.Gly893=) c.*59A>T (n.*59A>T) c.2829A>T (p.Gly943=) c.2802A>T (p.Gly934=) | gnomAD v4 |
| 7 | g.150947501T>C | CA458644959 | KCNH2 | n.3812A>G c.2979A>G (p.Gly993=) c.1959A>G (p.Gly653=) c.2679A>G (p.Gly893=) c.*59A>G (n.*59A>G) c.2829A>G (p.Gly943=) c.2802A>G (p.Gly934=) | |
| 7 | g.150947501T>G | CA458644960 | KCNH2 | n.3812A>C c.2979A>C (p.Gly993=) c.1959A>C (p.Gly653=) c.2679A>C (p.Gly893=) c.*59A>C (n.*59A>C) c.2829A>C (p.Gly943=) c.2802A>C (p.Gly934=) | ClinVar dbSNP |
| 7 | g.150947502C>A | CA369852997 | KCNH2 | n.3811G>T c.2978G>T (p.Gly993Val) c.1958G>T (p.Gly653Val) c.2678G>T (p.Gly893Val) c.*58G>T (n.*58G>T) c.2828G>T (p.Gly943Val) c.2801G>T (p.Gly934Val) | gnomAD v4 |
| 7 | g.150947502C>G | CA369852996 | KCNH2 | n.3811G>C c.2978G>C (p.Gly993Ala) c.1958G>C (p.Gly653Ala) c.2678G>C (p.Gly893Ala) c.*58G>C (n.*58G>C) c.2828G>C (p.Gly943Ala) c.2801G>C (p.Gly934Ala) | |
| 7 | g.150947502C>T | CA369852998 | KCNH2 | n.3811G>A c.2978G>A (p.Gly993Glu) c.1958G>A (p.Gly653Glu) c.2678G>A (p.Gly893Glu) c.*58G>A (n.*58G>A) c.2828G>A (p.Gly943Glu) c.2801G>A (p.Gly934Glu) | |
| 7 | g.150947503C>A | CA369852999 | KCNH2 | n.3810G>T c.2977G>T (p.Gly993Ter) c.1957G>T (p.Gly653Ter) c.2677G>T (p.Gly893Ter) c.*57G>T (n.*57G>T) c.2827G>T (p.Gly943Ter) c.2800G>T (p.Gly934Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947503C= | CA1752429470 | KCNH2 | n.3810G= c.2977G= (p.Gly993=) c.1957G= (p.Gly653=) c.2677G= (p.Gly893=) c.*57G= (n.*57G=) c.2827G= (p.Gly943=) c.2800G= (p.Gly934=) | |
| 7 | g.150947503C>G | CA369853000 | KCNH2 | n.3810G>C c.2977G>C (p.Gly993Arg) c.1957G>C (p.Gly653Arg) c.2677G>C (p.Gly893Arg) c.*57G>C (n.*57G>C) c.2827G>C (p.Gly943Arg) c.2800G>C (p.Gly934Arg) | |
| 7 | g.150947503C>T | CA369853001 | KCNH2 | n.3810G>A c.2977G>A (p.Gly993Arg) c.1957G>A (p.Gly653Arg) c.2677G>A (p.Gly893Arg) c.*57G>A (n.*57G>A) c.2827G>A (p.Gly943Arg) c.2800G>A (p.Gly934Arg) | |
| 7 | g.150947504T>A | CA458644961 | KCNH2 | n.3809A>T c.2976A>T (p.Ser992=) c.1956A>T (p.Ser652=) c.2676A>T (p.Ser892=) c.*56A>T (n.*56A>T) c.2826A>T (p.Ser942=) c.2799A>T (p.Ser933=) | gnomAD v4 |
| 7 | g.150947504T>C | CA458644962 | KCNH2 | n.3809A>G c.2976A>G (p.Ser992=) c.1956A>G (p.Ser652=) c.2676A>G (p.Ser892=) c.*56A>G (n.*56A>G) c.2826A>G (p.Ser942=) c.2799A>G (p.Ser933=) | ClinVar dbSNP gnomAD v4 |