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.150947327C>A | CA16042568 | KCNH2 | n.3985+1G>T c.3152+1G>T (n.3152+1G>T) c.2132+1G>T (n.2132+1G>T) c.2852+1G>T (n.2852+1G>T) c.3002+1G>T (n.3002+1G>T) c.2975+1G>T (n.2975+1G>T) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947327C= | CA1752428360 | KCNH2 | n.3985+1G= c.3152+1G= (n.3152+1G=) c.2132+1G= (n.2132+1G=) c.2852+1G= (n.2852+1G=) c.3002+1G= (n.3002+1G=) c.2975+1G= (n.2975+1G=) | |
| 7 | g.150947327C>G | CA369852462 | KCNH2 | n.3985+1G>C c.3152+1G>C (n.3152+1G>C) c.2132+1G>C (n.2132+1G>C) c.2852+1G>C (n.2852+1G>C) c.3002+1G>C (n.3002+1G>C) c.2975+1G>C (n.2975+1G>C) | |
| 7 | g.150947327C>T | CA369852464 | KCNH2 | n.3985+1G>A c.3152+1G>A (n.3152+1G>A) c.2132+1G>A (n.2132+1G>A) c.2852+1G>A (n.2852+1G>A) c.3002+1G>A (n.3002+1G>A) c.2975+1G>A (n.2975+1G>A) | gnomAD v4 |
| 7 | g.150947328C>A | CA369852466 | KCNH2 | n.3985G>T c.3152G>T (p.Arg1051Met) c.2132G>T (p.Arg711Met) c.2852G>T (p.Arg951Met) c.3002G>T (p.Arg1001Met) c.2975G>T (p.Arg992Met) | gnomAD v4 |
| 7 | g.150947328C>G | CA369852469 | KCNH2 | n.3985G>C c.3152G>C (p.Arg1051Thr) c.2132G>C (p.Arg711Thr) c.2852G>C (p.Arg951Thr) c.3002G>C (p.Arg1001Thr) c.2975G>C (p.Arg992Thr) | |
| 7 | g.150947328C>T | CA369852468 | KCNH2 | n.3985G>A c.3152G>A (p.Arg1051Lys) c.2132G>A (p.Arg711Lys) c.2852G>A (p.Arg951Lys) c.3002G>A (p.Arg1001Lys) c.2975G>A (p.Arg992Lys) | |
| 7 | g.150947329T>A | CA369852471 | KCNH2 | n.3984A>T c.3151A>T (p.Arg1051Trp) c.2131A>T (p.Arg711Trp) c.2851A>T (p.Arg951Trp) c.3001A>T (p.Arg1001Trp) c.2974A>T (p.Arg992Trp) | gnomAD v4 |
| 7 | g.150947329T>C | CA369852472 | KCNH2 | n.3984A>G c.3151A>G (p.Arg1051Gly) c.2131A>G (p.Arg711Gly) c.2851A>G (p.Arg951Gly) c.3001A>G (p.Arg1001Gly) c.2974A>G (p.Arg992Gly) | gnomAD v4 |
| 7 | g.150947329T>G | CA458644785 | KCNH2 | n.3984A>C c.3151A>C (p.Arg1051=) c.2131A>C (p.Arg711=) c.2851A>C (p.Arg951=) c.3001A>C (p.Arg1001=) c.2974A>C (p.Arg992=) | |
| 7 | g.150947330G>A | CA458644786 | KCNH2 | n.3983C>T c.3150C>T (p.Asn1050=) c.2130C>T (p.Asn710=) c.2850C>T (p.Asn950=) c.3000C>T (p.Asn1000=) c.2973C>T (p.Asn991=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947330G>C | CA369852474 | KCNH2 | n.3983C>G c.3150C>G (p.Asn1050Lys) c.2130C>G (p.Asn710Lys) c.2850C>G (p.Asn950Lys) c.3000C>G (p.Asn1000Lys) c.2973C>G (p.Asn991Lys) | |
| 7 | g.150947330G= | CA1752428366 | KCNH2 | n.3983C= c.3150C= (p.Asn1050=) c.2130C= (p.Asn710=) c.2850C= (p.Asn950=) c.3000C= (p.Asn1000=) c.2973C= (p.Asn991=) | |
| 7 | g.150947330G>T | CA369852476 | KCNH2 | n.3983C>A c.3150C>A (p.Asn1050Lys) c.2130C>A (p.Asn710Lys) c.2850C>A (p.Asn950Lys) c.3000C>A (p.Asn1000Lys) c.2973C>A (p.Asn991Lys) | gnomAD v4 |
| 7 | g.150947331T>A | CA369852477 | KCNH2 | n.3982A>T c.3149A>T (p.Asn1050Ile) c.2129A>T (p.Asn710Ile) c.2849A>T (p.Asn950Ile) c.2999A>T (p.Asn1000Ile) c.2972A>T (p.Asn991Ile) | |
| 7 | g.150947331T>C | CA369852480 | KCNH2 | n.3982A>G c.3149A>G (p.Asn1050Ser) c.2129A>G (p.Asn710Ser) c.2849A>G (p.Asn950Ser) c.2999A>G (p.Asn1000Ser) c.2972A>G (p.Asn991Ser) | gnomAD v4 |
| 7 | g.150947331T>G | CA369852478 | KCNH2 | n.3982A>C c.3149A>C (p.Asn1050Thr) c.2129A>C (p.Asn710Thr) c.2849A>C (p.Asn950Thr) c.2999A>C (p.Asn1000Thr) c.2972A>C (p.Asn991Thr) | |
| 7 | g.150947332T>A | CA369852482 | KCNH2 | n.3981A>T c.3148A>T (p.Asn1050Tyr) c.2128A>T (p.Asn710Tyr) c.2848A>T (p.Asn950Tyr) c.2998A>T (p.Asn1000Tyr) c.2971A>T (p.Asn991Tyr) | gnomAD v4 |
| 7 | g.150947332T>C | CA369852483 | KCNH2 | n.3981A>G c.3148A>G (p.Asn1050Asp) c.2128A>G (p.Asn710Asp) c.2848A>G (p.Asn950Asp) c.2998A>G (p.Asn1000Asp) c.2971A>G (p.Asn991Asp) | |
| 7 | g.150947332T>G | CA369852485 | KCNH2 | n.3981A>C c.3148A>C (p.Asn1050His) c.2128A>C (p.Asn710His) c.2848A>C (p.Asn950His) c.2998A>C (p.Asn1000His) c.2971A>C (p.Asn991His) | |
| 7 | g.150947333G>A | CA169071756 | KCNH2 | n.3980C>T c.3147C>T (p.Leu1049=) c.2127C>T (p.Leu709=) c.2847C>T (p.Leu949=) c.2997C>T (p.Leu999=) c.2970C>T (p.Leu990=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947333G>C | CA458644787 | KCNH2 | n.3980C>G c.3147C>G (p.Leu1049=) c.2127C>G (p.Leu709=) c.2847C>G (p.Leu949=) c.2997C>G (p.Leu999=) c.2970C>G (p.Leu990=) | |
| 7 | g.150947333G= | CA1752428368 | KCNH2 | n.3980C= c.3147C= (p.Leu1049=) c.2127C= (p.Leu709=) c.2847C= (p.Leu949=) c.2997C= (p.Leu999=) c.2970C= (p.Leu990=) | |
| 7 | g.150947333G>T | CA458644788 | KCNH2 | n.3980C>A c.3147C>A (p.Leu1049=) c.2127C>A (p.Leu709=) c.2847C>A (p.Leu949=) c.2997C>A (p.Leu999=) c.2970C>A (p.Leu990=) | gnomAD v4 |
| 7 | g.150947334A= | CA1752428375 | KCNH2 | n.3979T= c.3146T= (p.Leu1049=) c.2126T= (p.Leu709=) c.2846T= (p.Leu949=) c.2996T= (p.Leu999=) c.2969T= (p.Leu990=) | |
| 7 | g.150947334A>C | CA369852487 | KCNH2 | n.3979T>G c.3146T>G (p.Leu1049Arg) c.2126T>G (p.Leu709Arg) c.2846T>G (p.Leu949Arg) c.2996T>G (p.Leu999Arg) c.2969T>G (p.Leu990Arg) | |
| 7 | g.150947334A>G | CA008049 | KCNH2 | n.3979T>C c.3146T>C (p.Leu1049Pro) c.2126T>C (p.Leu709Pro) c.2846T>C (p.Leu949Pro) c.2996T>C (p.Leu999Pro) c.2969T>C (p.Leu990Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947334A>T | CA369852489 | KCNH2 | n.3979T>A c.3146T>A (p.Leu1049His) c.2126T>A (p.Leu709His) c.2846T>A (p.Leu949His) c.2996T>A (p.Leu999His) c.2969T>A (p.Leu990His) | |
| 7 | g.150947335G>A | CA369852494 | KCNH2 | n.3978C>T c.3145C>T (p.Leu1049Phe) c.2125C>T (p.Leu709Phe) c.2845C>T (p.Leu949Phe) c.2995C>T (p.Leu999Phe) c.2968C>T (p.Leu990Phe) | gnomAD v4 |
| 7 | g.150947335G>C | CA369852491 | KCNH2 | n.3978C>G c.3145C>G (p.Leu1049Val) c.2125C>G (p.Leu709Val) c.2845C>G (p.Leu949Val) c.2995C>G (p.Leu999Val) c.2968C>G (p.Leu990Val) | |
| 7 | g.150947335G>T | CA369852493 | KCNH2 | n.3978C>A c.3145C>A (p.Leu1049Ile) c.2125C>A (p.Leu709Ile) c.2845C>A (p.Leu949Ile) c.2995C>A (p.Leu999Ile) c.2968C>A (p.Leu990Ile) | gnomAD v4 |
| 7 | g.150947336C>A | CA369852496 | KCNH2 | n.3977G>T c.3144G>T (p.Gln1048His) c.2124G>T (p.Gln708His) c.2844G>T (p.Gln948His) c.2994G>T (p.Gln998His) c.2967G>T (p.Gln989His) | gnomAD v4 |
| 7 | g.150947336C= | CA1752428381 | KCNH2 | n.3977G= c.3144G= (p.Gln1048=) c.2124G= (p.Gln708=) c.2844G= (p.Gln948=) c.2994G= (p.Gln998=) c.2967G= (p.Gln989=) | |
| 7 | g.150947336C>G | CA369852498 | KCNH2 | n.3977G>C c.3144G>C (p.Gln1048His) c.2124G>C (p.Gln708His) c.2844G>C (p.Gln948His) c.2994G>C (p.Gln998His) c.2967G>C (p.Gln989His) | |
| 7 | g.150947336C>T | CA458644792 | KCNH2 | n.3977G>A c.3144G>A (p.Gln1048=) c.2124G>A (p.Gln708=) c.2844G>A (p.Gln948=) c.2994G>A (p.Gln998=) c.2967G>A (p.Gln989=) | dbSNP gnomAD v2 |
| 7 | g.150947337T>A | CA369852500 | KCNH2 | n.3976A>T c.3143A>T (p.Gln1048Leu) c.2123A>T (p.Gln708Leu) c.2843A>T (p.Gln948Leu) c.2993A>T (p.Gln998Leu) c.2966A>T (p.Gln989Leu) | |
| 7 | g.150947337T>C | CA369852501 | KCNH2 | n.3976A>G c.3143A>G (p.Gln1048Arg) c.2123A>G (p.Gln708Arg) c.2843A>G (p.Gln948Arg) c.2993A>G (p.Gln998Arg) c.2966A>G (p.Gln989Arg) | gnomAD v4 |
| 7 | g.150947337T>G | CA369852503 | KCNH2 | n.3976A>C c.3143A>C (p.Gln1048Pro) c.2123A>C (p.Gln708Pro) c.2843A>C (p.Gln948Pro) c.2993A>C (p.Gln998Pro) c.2966A>C (p.Gln989Pro) | gnomAD v4 |
| 7 | g.150947338G>A | CA369852505 | KCNH2 | n.3975C>T c.3142C>T (p.Gln1048Ter) c.2122C>T (p.Gln708Ter) c.2842C>T (p.Gln948Ter) c.2992C>T (p.Gln998Ter) c.2965C>T (p.Gln989Ter) | gnomAD v4 |
| 7 | g.150947338G>C | CA369852508 | KCNH2 | n.3975C>G c.3142C>G (p.Gln1048Glu) c.2122C>G (p.Gln708Glu) c.2842C>G (p.Gln948Glu) c.2992C>G (p.Gln998Glu) c.2965C>G (p.Gln989Glu) | gnomAD v4 |
| 7 | g.150947338G>T | CA369852506 | KCNH2 | n.3975C>A c.3142C>A (p.Gln1048Lys) c.2122C>A (p.Gln708Lys) c.2842C>A (p.Gln948Lys) c.2992C>A (p.Gln998Lys) c.2965C>A (p.Gln989Lys) | gnomAD v4 |
| 7 | g.150947339G>A | CA458644794 | KCNH2 | n.3974C>T c.3141C>T (p.Arg1047=) c.2121C>T (p.Arg707=) c.2841C>T (p.Arg947=) c.2991C>T (p.Arg997=) c.2964C>T (p.Arg988=) | dbSNP |
| 7 | g.150947339G>C | CA458644795 | KCNH2 | n.3974C>G c.3141C>G (p.Arg1047=) c.2121C>G (p.Arg707=) c.2841C>G (p.Arg947=) c.2991C>G (p.Arg997=) c.2964C>G (p.Arg988=) | |
| 7 | g.150947339G= | CA1752428383 | KCNH2 | n.3974C= c.3141C= (p.Arg1047=) c.2121C= (p.Arg707=) c.2841C= (p.Arg947=) c.2991C= (p.Arg997=) c.2964C= (p.Arg988=) | |
| 7 | g.150947339G>T | CA458644796 | KCNH2 | n.3974C>A c.3141C>A (p.Arg1047=) c.2121C>A (p.Arg707=) c.2841C>A (p.Arg947=) c.2991C>A (p.Arg997=) c.2964C>A (p.Arg988=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947340del | CA2778425741 | KCNH2 | n.3973del c.3140del (p.Arg1047ProfsTer10) c.2120del (p.Arg707ProfsTer10) c.2840del (p.Arg947ProfsTer10) c.2990del (p.Arg997ProfsTer10) c.2963del (p.Arg988ProfsTer10) | |
| 7 | g.150947340C>A | CA008041 | KCNH2 | n.3973G>T c.3140G>T (p.Arg1047Leu) c.2120G>T (p.Arg707Leu) c.2840G>T (p.Arg947Leu) c.2990G>T (p.Arg997Leu) c.2963G>T (p.Arg988Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947340C= | CA1752428387 | KCNH2 | n.3973G= c.3140G= (p.Arg1047=) c.2120G= (p.Arg707=) c.2840G= (p.Arg947=) c.2990G= (p.Arg997=) c.2963G= (p.Arg988=) | |
| 7 | g.150947340C>G | CA369852510 | KCNH2 | n.3973G>C c.3140G>C (p.Arg1047Pro) c.2120G>C (p.Arg707Pro) c.2840G>C (p.Arg947Pro) c.2990G>C (p.Arg997Pro) c.2963G>C (p.Arg988Pro) |