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.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.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=) | |
| 7 | g.150948903A>C | CA369854855 | KCNH2 | n.3378T>G c.2545T>G (p.Ser849Ala) c.1525T>G (p.Ser509Ala) c.2245T>G (p.Ser749Ala) c.2395T>G (p.Ser799Ala) c.2368T>G (p.Ser790Ala) | |
| 7 | g.150948903A>G | CA369854857 | KCNH2 | n.3378T>C c.2545T>C (p.Ser849Pro) c.1525T>C (p.Ser509Pro) c.2245T>C (p.Ser749Pro) c.2395T>C (p.Ser799Pro) c.2368T>C (p.Ser790Pro) | |
| 7 | g.150948903A>T | CA369854859 | KCNH2 | n.3378T>A c.2545T>A (p.Ser849Thr) c.1525T>A (p.Ser509Thr) c.2245T>A (p.Ser749Thr) c.2395T>A (p.Ser799Thr) c.2368T>A (p.Ser790Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150948904G>A | CA458645136 | KCNH2 | n.3377C>T c.2544C>T (p.Phe848=) c.1524C>T (p.Phe508=) c.2244C>T (p.Phe748=) c.2394C>T (p.Phe798=) c.2367C>T (p.Phe789=) | |
| 7 | g.150948904G>C | CA369854861 | KCNH2 | n.3377C>G c.2544C>G (p.Phe848Leu) c.1524C>G (p.Phe508Leu) c.2244C>G (p.Phe748Leu) c.2394C>G (p.Phe798Leu) c.2367C>G (p.Phe789Leu) | |
| 7 | g.150948904G>T | CA369854863 | KCNH2 | n.3377C>A c.2544C>A (p.Phe848Leu) c.1524C>A (p.Phe508Leu) c.2244C>A (p.Phe748Leu) c.2394C>A (p.Phe798Leu) c.2367C>A (p.Phe789Leu) | |
| 7 | g.150948905A>C | CA369854865 | KCNH2 | n.3376T>G c.2543T>G (p.Phe848Cys) c.1523T>G (p.Phe508Cys) c.2243T>G (p.Phe748Cys) c.2393T>G (p.Phe798Cys) c.2366T>G (p.Phe789Cys) | |
| 7 | g.150948905A>G | CA369854867 | KCNH2 | n.3376T>C c.2543T>C (p.Phe848Ser) c.1523T>C (p.Phe508Ser) c.2243T>C (p.Phe748Ser) c.2393T>C (p.Phe798Ser) c.2366T>C (p.Phe789Ser) | |
| 7 | g.150948905A>T | CA369854869 | KCNH2 | n.3376T>A c.2543T>A (p.Phe848Tyr) c.1523T>A (p.Phe508Tyr) c.2243T>A (p.Phe748Tyr) c.2393T>A (p.Phe798Tyr) c.2366T>A (p.Phe789Tyr) | |
| 7 | g.150948906A>C | CA369854871 | KCNH2 | n.3375T>G c.2542T>G (p.Phe848Val) c.1522T>G (p.Phe508Val) c.2242T>G (p.Phe748Val) c.2392T>G (p.Phe798Val) c.2365T>G (p.Phe789Val) | |
| 7 | g.150948906A>G | CA369854873 | KCNH2 | n.3375T>C c.2542T>C (p.Phe848Leu) c.1522T>C (p.Phe508Leu) c.2242T>C (p.Phe748Leu) c.2392T>C (p.Phe798Leu) c.2365T>C (p.Phe789Leu) | |
| 7 | g.150948906A>T | CA369854875 | KCNH2 | n.3375T>A c.2542T>A (p.Phe848Ile) c.1522T>A (p.Phe508Ile) c.2242T>A (p.Phe748Ile) c.2392T>A (p.Phe798Ile) c.2365T>A (p.Phe789Ile) | |
| 7 | g.150948907C>A | CA169074754 | KCNH2 | n.3374G>T c.2541G>T (p.Glu847Asp) c.1521G>T (p.Glu507Asp) c.2241G>T (p.Glu747Asp) c.2391G>T (p.Glu797Asp) c.2364G>T (p.Glu788Asp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948907C= | CA1752431896 | KCNH2 | n.3374G= c.2541G= (p.Glu847=) c.1521G= (p.Glu507=) c.2241G= (p.Glu747=) c.2391G= (p.Glu797=) c.2364G= (p.Glu788=) | |
| 7 | g.150948907C>G | CA369854877 | KCNH2 | n.3374G>C c.2541G>C (p.Glu847Asp) c.1521G>C (p.Glu507Asp) c.2241G>C (p.Glu747Asp) c.2391G>C (p.Glu797Asp) c.2364G>C (p.Glu788Asp) | |
| 7 | g.150948907C>T | CA458645137 | KCNH2 | n.3374G>A c.2541G>A (p.Glu847=) c.1521G>A (p.Glu507=) c.2241G>A (p.Glu747=) c.2391G>A (p.Glu797=) c.2364G>A (p.Glu788=) | gnomAD v4 |
| 7 | g.150948907_150948914del | CA2739278692 | KCNH2 | n.3367_3374del c.2534_2541del (p.Tyr845PhefsTer?) c.1514_1521del (p.Tyr505PhefsTer?) c.2234_2241del (p.Tyr745PhefsTer?) c.2384_2391del (p.Tyr795PhefsTer?) c.2357_2364del (p.Tyr786PhefsTer?) | ClinVar |
| 7 | g.150948908T>A | CA369854880 | KCNH2 | n.3373A>T c.2540A>T (p.Glu847Val) c.1520A>T (p.Glu507Val) c.2240A>T (p.Glu747Val) c.2390A>T (p.Glu797Val) c.2363A>T (p.Glu788Val) | |
| 7 | g.150948908T>C | CA369854882 | KCNH2 | n.3373A>G c.2540A>G (p.Glu847Gly) c.1520A>G (p.Glu507Gly) c.2240A>G (p.Glu747Gly) c.2390A>G (p.Glu797Gly) c.2363A>G (p.Glu788Gly) | |
| 7 | g.150948908T>G | CA369854884 | KCNH2 | n.3373A>C c.2540A>C (p.Glu847Ala) c.1520A>C (p.Glu507Ala) c.2240A>C (p.Glu747Ala) c.2390A>C (p.Glu797Ala) c.2363A>C (p.Glu788Ala) | gnomAD v4 |
| 7 | g.150948909C>A | CA369854886 | KCNH2 | n.3372G>T c.2539G>T (p.Glu847Ter) c.1519G>T (p.Glu507Ter) c.2239G>T (p.Glu747Ter) c.2389G>T (p.Glu797Ter) c.2362G>T (p.Glu788Ter) | |
| 7 | g.150948909C>G | CA369854887 | KCNH2 | n.3372G>C c.2539G>C (p.Glu847Gln) c.1519G>C (p.Glu507Gln) c.2239G>C (p.Glu747Gln) c.2389G>C (p.Glu797Gln) c.2362G>C (p.Glu788Gln) | gnomAD v4 |
| 7 | g.150948909C>T | CA369854889 | KCNH2 | n.3372G>A c.2539G>A (p.Glu847Lys) c.1519G>A (p.Glu507Lys) c.2239G>A (p.Glu747Lys) c.2389G>A (p.Glu797Lys) c.2362G>A (p.Glu788Lys) | |
| 7 | g.150948910A= | CA1752431897 | KCNH2 | n.3371T= c.2538T= (p.Pro846=) c.1518T= (p.Pro506=) c.2238T= (p.Pro746=) c.2388T= (p.Pro796=) c.2361T= (p.Pro787=) | |
| 7 | g.150948910A>C | CA458645138 | KCNH2 | n.3371T>G c.2538T>G (p.Pro846=) c.1518T>G (p.Pro506=) c.2238T>G (p.Pro746=) c.2388T>G (p.Pro796=) c.2361T>G (p.Pro787=) | |
| 7 | g.150948910A>G | CA033010 | KCNH2 | n.3371T>C c.2538T>C (p.Pro846=) c.1518T>C (p.Pro506=) c.2238T>C (p.Pro746=) c.2388T>C (p.Pro796=) c.2361T>C (p.Pro787=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150948910A>T | CA458645139 | KCNH2 | n.3371T>A c.2538T>A (p.Pro846=) c.1518T>A (p.Pro506=) c.2238T>A (p.Pro746=) c.2388T>A (p.Pro796=) c.2361T>A (p.Pro787=) | |
| 7 | g.150948911G>A | CA16612301 | KCNH2 | n.3370C>T c.2537C>T (p.Pro846Leu) c.1517C>T (p.Pro506Leu) c.2237C>T (p.Pro746Leu) c.2387C>T (p.Pro796Leu) c.2360C>T (p.Pro787Leu) | ClinVar dbSNP |
| 7 | g.150948911G>C | CA369854893 | KCNH2 | n.3370C>G c.2537C>G (p.Pro846Arg) c.1517C>G (p.Pro506Arg) c.2237C>G (p.Pro746Arg) c.2387C>G (p.Pro796Arg) c.2360C>G (p.Pro787Arg) | |
| 7 | g.150948911G= | CA1752431898 | KCNH2 | n.3370C= c.2537C= (p.Pro846=) c.1517C= (p.Pro506=) c.2237C= (p.Pro746=) c.2387C= (p.Pro796=) c.2360C= (p.Pro787=) | |
| 7 | g.150948911G>T | CA369854895 | KCNH2 | n.3370C>A c.2537C>A (p.Pro846His) c.1517C>A (p.Pro506His) c.2237C>A (p.Pro746His) c.2387C>A (p.Pro796His) c.2360C>A (p.Pro787His) | |
| 7 | g.150948912_150948913del | CA2573141855 | KCNH2 | n.3369_3370del c.2536_2537del (p.Pro846Ter) c.1516_1517del (p.Pro506Ter) c.2236_2237del (p.Pro746Ter) c.2386_2387del (p.Pro796Ter) c.2359_2360del (p.Pro787Ter) | ClinVar dbSNP |
| 7 | g.150948912G>A | CA006916 | KCNH2 | n.3369C>T c.2536C>T (p.Pro846Ser) c.1516C>T (p.Pro506Ser) c.2236C>T (p.Pro746Ser) c.2386C>T (p.Pro796Ser) c.2359C>T (p.Pro787Ser) | ClinVar dbSNP |
| 7 | g.150948912G>C | CA006908 | KCNH2 | n.3369C>G c.2536C>G (p.Pro846Ala) c.1516C>G (p.Pro506Ala) c.2236C>G (p.Pro746Ala) c.2386C>G (p.Pro796Ala) c.2359C>G (p.Pro787Ala) | ClinVar dbSNP |
| 7 | g.150948912G= | CA1752431903 | KCNH2 | n.3369C= c.2536C= (p.Pro846=) c.1516C= (p.Pro506=) c.2236C= (p.Pro746=) c.2386C= (p.Pro796=) c.2359C= (p.Pro787=) | |
| 7 | g.150948912G>T | CA006897 | KCNH2 | n.3369C>A c.2536C>A (p.Pro846Thr) c.1516C>A (p.Pro506Thr) c.2236C>A (p.Pro746Thr) c.2386C>A (p.Pro796Thr) c.2359C>A (p.Pro787Thr) | ClinVar dbSNP |