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.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.150948889C>A | CA369854789 | KCNH2 | n.3392G>T c.2559G>T (p.Trp853Cys) c.1539G>T (p.Trp513Cys) c.2259G>T (p.Trp753Cys) c.2409G>T (p.Trp803Cys) c.2382G>T (p.Trp794Cys) | |
| 7 | g.150948889C>G | CA369854793 | KCNH2 | n.3392G>C c.2559G>C (p.Trp853Cys) c.1539G>C (p.Trp513Cys) c.2259G>C (p.Trp753Cys) c.2409G>C (p.Trp803Cys) c.2382G>C (p.Trp794Cys) | |
| 7 | g.150948889C>T | CA369854791 | KCNH2 | n.3392G>A c.2559G>A (p.Trp853Ter) c.1539G>A (p.Trp513Ter) c.2259G>A (p.Trp753Ter) c.2409G>A (p.Trp803Ter) c.2382G>A (p.Trp794Ter) | ClinVar dbSNP |
| 7 | g.150948890del | CA2695208824 | KCNH2 | n.3392del c.2559del (p.Trp853CysfsTer15) c.1539del (p.Trp513CysfsTer15) c.2259del (p.Trp753CysfsTer15) c.2409del (p.Trp803CysfsTer15) c.2382del (p.Trp794CysfsTer15) | |
| 7 | g.150948890C>A | CA369854795 | KCNH2 | n.3391G>T c.2558G>T (p.Trp853Leu) c.1538G>T (p.Trp513Leu) c.2258G>T (p.Trp753Leu) c.2408G>T (p.Trp803Leu) c.2381G>T (p.Trp794Leu) | |
| 7 | g.150948890C>G | CA369854798 | KCNH2 | n.3391G>C c.2558G>C (p.Trp853Ser) c.1538G>C (p.Trp513Ser) c.2258G>C (p.Trp753Ser) c.2408G>C (p.Trp803Ser) c.2381G>C (p.Trp794Ser) | |
| 7 | g.150948890C>T | CA369854796 | KCNH2 | n.3391G>A c.2558G>A (p.Trp853Ter) c.1538G>A (p.Trp513Ter) c.2258G>A (p.Trp753Ter) c.2408G>A (p.Trp803Ter) c.2381G>A (p.Trp794Ter) | |
| 7 | g.150948891A>C | CA369854800 | KCNH2 | n.3390T>G c.2557T>G (p.Trp853Gly) c.1537T>G (p.Trp513Gly) c.2257T>G (p.Trp753Gly) c.2407T>G (p.Trp803Gly) c.2380T>G (p.Trp794Gly) | |
| 7 | g.150948891A>G | CA369854802 | KCNH2 | n.3390T>C c.2557T>C (p.Trp853Arg) c.1537T>C (p.Trp513Arg) c.2257T>C (p.Trp753Arg) c.2407T>C (p.Trp803Arg) c.2380T>C (p.Trp794Arg) | |
| 7 | g.150948891A>T | CA369854803 | KCNH2 | n.3390T>A c.2557T>A (p.Trp853Arg) c.1537T>A (p.Trp513Arg) c.2257T>A (p.Trp753Arg) c.2407T>A (p.Trp803Arg) c.2380T>A (p.Trp794Arg) | |
| 7 | g.150948892G>A | CA458645131 | KCNH2 | n.3389C>T c.2556C>T (p.Phe852=) c.1536C>T (p.Phe512=) c.2256C>T (p.Phe752=) c.2406C>T (p.Phe802=) c.2379C>T (p.Phe793=) | |
| 7 | g.150948892G>C | CA369854805 | KCNH2 | n.3389C>G c.2556C>G (p.Phe852Leu) c.1536C>G (p.Phe512Leu) c.2256C>G (p.Phe752Leu) c.2406C>G (p.Phe802Leu) c.2379C>G (p.Phe793Leu) | |
| 7 | g.150948892G>T | CA369854807 | KCNH2 | n.3389C>A c.2556C>A (p.Phe852Leu) c.1536C>A (p.Phe512Leu) c.2256C>A (p.Phe752Leu) c.2406C>A (p.Phe802Leu) c.2379C>A (p.Phe793Leu) | |
| 7 | g.150948893A>C | CA369854808 | KCNH2 | n.3388T>G c.2555T>G (p.Phe852Cys) c.1535T>G (p.Phe512Cys) c.2255T>G (p.Phe752Cys) c.2405T>G (p.Phe802Cys) c.2378T>G (p.Phe793Cys) | |
| 7 | g.150948893A>G | CA369854810 | KCNH2 | n.3388T>C c.2555T>C (p.Phe852Ser) c.1535T>C (p.Phe512Ser) c.2255T>C (p.Phe752Ser) c.2405T>C (p.Phe802Ser) c.2378T>C (p.Phe793Ser) | |
| 7 | g.150948893A>T | CA369854812 | KCNH2 | n.3388T>A c.2555T>A (p.Phe852Tyr) c.1535T>A (p.Phe512Tyr) c.2255T>A (p.Phe752Tyr) c.2405T>A (p.Phe802Tyr) c.2378T>A (p.Phe793Tyr) | |
| 7 | g.150948894del | CA2499218794 | KCNH2 | n.3388del c.2555del (p.Phe852SerfsTer16) c.1535del (p.Phe512SerfsTer16) c.2255del (p.Phe752SerfsTer16) c.2405del (p.Phe802SerfsTer16) c.2378del (p.Phe793SerfsTer16) | ClinVar dbSNP |
| 7 | g.150948894A>C | CA369854814 | KCNH2 | n.3387T>G c.2554T>G (p.Phe852Val) c.1534T>G (p.Phe512Val) c.2254T>G (p.Phe752Val) c.2404T>G (p.Phe802Val) c.2377T>G (p.Phe793Val) | |
| 7 | g.150948894A>G | CA369854816 | KCNH2 | n.3387T>C c.2554T>C (p.Phe852Leu) c.1534T>C (p.Phe512Leu) c.2254T>C (p.Phe752Leu) c.2404T>C (p.Phe802Leu) c.2377T>C (p.Phe793Leu) | |
| 7 | g.150948894A>T | CA369854818 | KCNH2 | n.3387T>A c.2554T>A (p.Phe852Ile) c.1534T>A (p.Phe512Ile) c.2254T>A (p.Phe752Ile) c.2404T>A (p.Phe802Ile) c.2377T>A (p.Phe793Ile) | |
| 7 | g.150948895G>A | CA458645132 | KCNH2 | n.3386C>T c.2553C>T (p.His851=) c.1533C>T (p.His511=) c.2253C>T (p.His751=) c.2403C>T (p.His801=) c.2376C>T (p.His792=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150948895G>C | CA369854820 | KCNH2 | n.3386C>G c.2553C>G (p.His851Gln) c.1533C>G (p.His511Gln) c.2253C>G (p.His751Gln) c.2403C>G (p.His801Gln) c.2376C>G (p.His792Gln) | |
| 7 | g.150948895G= | CA1752431873 | KCNH2 | n.3386C= c.2553C= (p.His851=) c.1533C= (p.His511=) c.2253C= (p.His751=) c.2403C= (p.His801=) c.2376C= (p.His792=) | |
| 7 | g.150948895G>T | CA369854822 | KCNH2 | n.3386C>A c.2553C>A (p.His851Gln) c.1533C>A (p.His511Gln) c.2253C>A (p.His751Gln) c.2403C>A (p.His801Gln) c.2376C>A (p.His792Gln) | |
| 7 | g.150948896T>A | CA369854824 | KCNH2 | n.3385A>T c.2552A>T (p.His851Leu) c.1532A>T (p.His511Leu) c.2252A>T (p.His751Leu) c.2402A>T (p.His801Leu) c.2375A>T (p.His792Leu) | |
| 7 | g.150948896T>C | CA369854827 | KCNH2 | n.3385A>G c.2552A>G (p.His851Arg) c.1532A>G (p.His511Arg) c.2252A>G (p.His751Arg) c.2402A>G (p.His801Arg) c.2375A>G (p.His792Arg) | |
| 7 | g.150948896T>G | CA369854826 | KCNH2 | n.3385A>C c.2552A>C (p.His851Pro) c.1532A>C (p.His511Pro) c.2252A>C (p.His751Pro) c.2402A>C (p.His801Pro) c.2375A>C (p.His792Pro) | |
| 7 | g.150948897G>A | CA369854829 | KCNH2 | n.3384C>T c.2551C>T (p.His851Tyr) c.1531C>T (p.His511Tyr) c.2251C>T (p.His751Tyr) c.2401C>T (p.His801Tyr) c.2374C>T (p.His792Tyr) | |
| 7 | g.150948897G>C | CA369854830 | KCNH2 | n.3384C>G c.2551C>G (p.His851Asp) c.1531C>G (p.His511Asp) c.2251C>G (p.His751Asp) c.2401C>G (p.His801Asp) c.2374C>G (p.His792Asp) | COSMIC COSMIC |
| 7 | g.150948897G>T | CA369854832 | KCNH2 | n.3384C>A c.2551C>A (p.His851Asn) c.1531C>A (p.His511Asn) c.2251C>A (p.His751Asn) c.2401C>A (p.His801Asn) c.2374C>A (p.His792Asn) | |
| 7 | g.150948898G>A | CA458645133 | KCNH2 | n.3383C>T c.2550C>T (p.Asp850=) c.1530C>T (p.Asp510=) c.2250C>T (p.Asp750=) c.2400C>T (p.Asp800=) c.2373C>T (p.Asp791=) | |
| 7 | g.150948898G>C | CA369854834 | KCNH2 | n.3383C>G c.2550C>G (p.Asp850Glu) c.1530C>G (p.Asp510Glu) c.2250C>G (p.Asp750Glu) c.2400C>G (p.Asp800Glu) c.2373C>G (p.Asp791Glu) | |
| 7 | g.150948898G>T | CA369854835 | KCNH2 | n.3383C>A c.2550C>A (p.Asp850Glu) c.1530C>A (p.Asp510Glu) c.2250C>A (p.Asp750Glu) c.2400C>A (p.Asp800Glu) c.2373C>A (p.Asp791Glu) | |
| 7 | g.150948899T>A | CA369854838 | KCNH2 | n.3382A>T c.2549A>T (p.Asp850Val) c.1529A>T (p.Asp510Val) c.2249A>T (p.Asp750Val) c.2399A>T (p.Asp800Val) c.2372A>T (p.Asp791Val) | dbSNP |
| 7 | g.150948899T>C | CA369854840 | KCNH2 | n.3382A>G c.2549A>G (p.Asp850Gly) c.1529A>G (p.Asp510Gly) c.2249A>G (p.Asp750Gly) c.2399A>G (p.Asp800Gly) c.2372A>G (p.Asp791Gly) | |
| 7 | g.150948899T>G | CA369854841 | KCNH2 | n.3382A>C c.2549A>C (p.Asp850Ala) c.1529A>C (p.Asp510Ala) c.2249A>C (p.Asp750Ala) c.2399A>C (p.Asp800Ala) c.2372A>C (p.Asp791Ala) | |
| 7 | g.150948900C>A | CA369854844 | KCNH2 | n.3381G>T c.2548G>T (p.Asp850Tyr) c.1528G>T (p.Asp510Tyr) c.2248G>T (p.Asp750Tyr) c.2398G>T (p.Asp800Tyr) c.2371G>T (p.Asp791Tyr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948900C= | CA1752431881 | KCNH2 | n.3381G= c.2548G= (p.Asp850=) c.1528G= (p.Asp510=) c.2248G= (p.Asp750=) c.2398G= (p.Asp800=) c.2371G= (p.Asp791=) | |
| 7 | g.150948900C>G | CA369854845 | KCNH2 | n.3381G>C c.2548G>C (p.Asp850His) c.1528G>C (p.Asp510His) c.2248G>C (p.Asp750His) c.2398G>C (p.Asp800His) c.2371G>C (p.Asp791His) | ClinVar |
| 7 | g.150948900C>T | CA169074750 | KCNH2 | n.3381G>A c.2548G>A (p.Asp850Asn) c.1528G>A (p.Asp510Asn) c.2248G>A (p.Asp750Asn) c.2398G>A (p.Asp800Asn) c.2371G>A (p.Asp791Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150948901G>A | CA033018 | KCNH2 | n.3380C>T c.2547C>T (p.Ser849=) c.1527C>T (p.Ser509=) c.2247C>T (p.Ser749=) c.2397C>T (p.Ser799=) c.2370C>T (p.Ser790=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948901G>C | CA458645135 | KCNH2 | n.3380C>G c.2547C>G (p.Ser849=) c.1527C>G (p.Ser509=) c.2247C>G (p.Ser749=) c.2397C>G (p.Ser799=) c.2370C>G (p.Ser790=) | ClinVar |
| 7 | g.150948901G= | CA1752431885 | KCNH2 | n.3380C= c.2547C= (p.Ser849=) c.1527C= (p.Ser509=) c.2247C= (p.Ser749=) c.2397C= (p.Ser799=) c.2370C= (p.Ser790=) | |
| 7 | g.150948901G>T | CA458645134 | KCNH2 | n.3380C>A c.2547C>A (p.Ser849=) c.1527C>A (p.Ser509=) c.2247C>A (p.Ser749=) c.2397C>A (p.Ser799=) c.2370C>A (p.Ser790=) | |
| 7 | g.150948902G>A | CA369854853 | KCNH2 | n.3379C>T c.2546C>T (p.Ser849Phe) c.1526C>T (p.Ser509Phe) c.2246C>T (p.Ser749Phe) c.2396C>T (p.Ser799Phe) c.2369C>T (p.Ser790Phe) | dbSNP |
| 7 | g.150948902G>C | CA369854849 | KCNH2 | n.3379C>G c.2546C>G (p.Ser849Cys) c.1526C>G (p.Ser509Cys) c.2246C>G (p.Ser749Cys) c.2396C>G (p.Ser799Cys) c.2369C>G (p.Ser790Cys) | |
| 7 | g.150948902G= | CA1752431889 | KCNH2 | n.3379C= c.2546C= (p.Ser849=) c.1526C= (p.Ser509=) c.2246C= (p.Ser749=) c.2396C= (p.Ser799=) c.2369C= (p.Ser790=) | |
| 7 | g.150948902G>T | CA369854851 | KCNH2 | n.3379C>A c.2546C>A (p.Ser849Tyr) c.1526C>A (p.Ser509Tyr) c.2246C>A (p.Ser749Tyr) c.2396C>A (p.Ser799Tyr) c.2369C>A (p.Ser790Tyr) | |
| 7 | g.150948903A= | CA1752431893 | KCNH2 | n.3378T= c.2545T= (p.Ser849=) c.1525T= (p.Ser509=) c.2245T= (p.Ser749=) c.2395T= (p.Ser799=) c.2368T= (p.Ser790=) |