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.150948857T>A | CA369854672 | KCNH2 | n.3424A>T c.2591A>T (p.Asp864Val) c.1571A>T (p.Asp524Val) c.2291A>T (p.Asp764Val) c.2441A>T (p.Asp814Val) c.2414A>T (p.Asp805Val) | |
| 7 | g.150948857T>C | CA007016 | KCNH2 | n.3424A>G c.2591A>G (p.Asp864Gly) c.1571A>G (p.Asp524Gly) c.2291A>G (p.Asp764Gly) c.2441A>G (p.Asp814Gly) c.2414A>G (p.Asp805Gly) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948857T>G | CA369854673 | KCNH2 | n.3424A>C c.2591A>C (p.Asp864Ala) c.1571A>C (p.Asp524Ala) c.2291A>C (p.Asp764Ala) c.2441A>C (p.Asp814Ala) c.2414A>C (p.Asp805Ala) | |
| 7 | g.150948857T= | CA1752431797 | KCNH2 | n.3424A= c.2591A= (p.Asp864=) c.1571A= (p.Asp524=) c.2291A= (p.Asp764=) c.2441A= (p.Asp814=) c.2414A= (p.Asp805=) | |
| 7 | g.150948858C>A | CA369854675 | KCNH2 | n.3423G>T c.2590G>T (p.Asp864Tyr) c.1570G>T (p.Asp524Tyr) c.2290G>T (p.Asp764Tyr) c.2440G>T (p.Asp814Tyr) c.2413G>T (p.Asp805Tyr) | dbSNP |
| 7 | g.150948858C= | CA1752431802 | KCNH2 | n.3423G= c.2590G= (p.Asp864=) c.1570G= (p.Asp524=) c.2290G= (p.Asp764=) c.2440G= (p.Asp814=) c.2413G= (p.Asp805=) | |
| 7 | g.150948858C>G | CA369854677 | KCNH2 | n.3423G>C c.2590G>C (p.Asp864His) c.1570G>C (p.Asp524His) c.2290G>C (p.Asp764His) c.2440G>C (p.Asp814His) c.2413G>C (p.Asp805His) | |
| 7 | g.150948858C>T | CA369854679 | KCNH2 | n.3423G>A c.2590G>A (p.Asp864Asn) c.1570G>A (p.Asp524Asn) c.2290G>A (p.Asp764Asn) c.2440G>A (p.Asp814Asn) c.2413G>A (p.Asp805Asn) | |
| 7 | g.150948859T>A | CA458645111 | KCNH2 | n.3422A>T c.2589A>T (p.Arg863=) c.1569A>T (p.Arg523=) c.2289A>T (p.Arg763=) c.2439A>T (p.Arg813=) c.2412A>T (p.Arg804=) | |
| 7 | g.150948859T>C | CA169074683 | KCNH2 | n.3422A>G c.2589A>G (p.Arg863=) c.1569A>G (p.Arg523=) c.2289A>G (p.Arg763=) c.2439A>G (p.Arg813=) c.2412A>G (p.Arg804=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948859T>G | CA458645110 | KCNH2 | n.3422A>C c.2589A>C (p.Arg863=) c.1569A>C (p.Arg523=) c.2289A>C (p.Arg763=) c.2439A>C (p.Arg813=) c.2412A>C (p.Arg804=) | |
| 7 | g.150948859T= | CA1752431810 | KCNH2 | n.3422A= c.2589A= (p.Arg863=) c.1569A= (p.Arg523=) c.2289A= (p.Arg763=) c.2439A= (p.Arg813=) c.2412A= (p.Arg804=) | |
| 7 | g.150948860C>A | CA369854682 | KCNH2 | n.3421G>T c.2588G>T (p.Arg863Leu) c.1568G>T (p.Arg523Leu) c.2288G>T (p.Arg763Leu) c.2438G>T (p.Arg813Leu) c.2411G>T (p.Arg804Leu) | |
| 7 | g.150948860C= | CA1752431812 | KCNH2 | n.3421G= c.2588G= (p.Arg863=) c.1568G= (p.Arg523=) c.2288G= (p.Arg763=) c.2438G= (p.Arg813=) c.2411G= (p.Arg804=) | |
| 7 | g.150948860C>G | CA369854680 | KCNH2 | n.3421G>C c.2588G>C (p.Arg863Pro) c.1568G>C (p.Arg523Pro) c.2288G>C (p.Arg763Pro) c.2438G>C (p.Arg813Pro) c.2411G>C (p.Arg804Pro) | |
| 7 | g.150948860C>T | CA169074695 | KCNH2 | n.3421G>A c.2588G>A (p.Arg863Gln) c.1568G>A (p.Arg523Gln) c.2288G>A (p.Arg763Gln) c.2438G>A (p.Arg813Gln) c.2411G>A (p.Arg804Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.150948861G>A | CA033069 | KCNH2 | n.3420C>T c.2587C>T (p.Arg863Ter) c.1567C>T (p.Arg523Ter) c.2287C>T (p.Arg763Ter) c.2437C>T (p.Arg813Ter) c.2410C>T (p.Arg804Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 7 | g.150948861G>C | CA369854684 | KCNH2 | n.3420C>G c.2587C>G (p.Arg863Gly) c.1567C>G (p.Arg523Gly) c.2287C>G (p.Arg763Gly) c.2437C>G (p.Arg813Gly) c.2410C>G (p.Arg804Gly) | |
| 7 | g.150948861G= | CA1752431815 | KCNH2 | n.3420C= c.2587C= (p.Arg863=) c.1567C= (p.Arg523=) c.2287C= (p.Arg763=) c.2437C= (p.Arg813=) c.2410C= (p.Arg804=) | |
| 7 | g.150948861G>T | CA458645112 | KCNH2 | n.3420C>A c.2587C>A (p.Arg863=) c.1567C>A (p.Arg523=) c.2287C>A (p.Arg763=) c.2437C>A (p.Arg813=) c.2410C>A (p.Arg804=) | |
| 7 | g.150948862C>A | CA458645113 | KCNH2 | n.3419G>T c.2586G>T (p.Leu862=) c.1566G>T (p.Leu522=) c.2286G>T (p.Leu762=) c.2436G>T (p.Leu812=) c.2409G>T (p.Leu803=) | |
| 7 | g.150948862C= | CA1752431820 | KCNH2 | n.3419G= c.2586G= (p.Leu862=) c.1566G= (p.Leu522=) c.2286G= (p.Leu762=) c.2436G= (p.Leu812=) c.2409G= (p.Leu803=) | |
| 7 | g.150948862C>G | CA458645114 | KCNH2 | n.3419G>C c.2586G>C (p.Leu862=) c.1566G>C (p.Leu522=) c.2286G>C (p.Leu762=) c.2436G>C (p.Leu812=) c.2409G>C (p.Leu803=) | |
| 7 | g.150948862C>T | CA458645115 | KCNH2 | n.3419G>A c.2586G>A (p.Leu862=) c.1566G>A (p.Leu522=) c.2286G>A (p.Leu762=) c.2436G>A (p.Leu812=) c.2409G>A (p.Leu803=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150948863A>C | CA369854687 | KCNH2 | n.3418T>G c.2585T>G (p.Leu862Arg) c.1565T>G (p.Leu522Arg) c.2285T>G (p.Leu762Arg) c.2435T>G (p.Leu812Arg) c.2408T>G (p.Leu803Arg) | |
| 7 | g.150948863A>G | CA369854689 | KCNH2 | n.3418T>C c.2585T>C (p.Leu862Pro) c.1565T>C (p.Leu522Pro) c.2285T>C (p.Leu762Pro) c.2435T>C (p.Leu812Pro) c.2408T>C (p.Leu803Pro) | |
| 7 | g.150948863A>T | CA369854690 | KCNH2 | n.3418T>A c.2585T>A (p.Leu862Gln) c.1565T>A (p.Leu522Gln) c.2285T>A (p.Leu762Gln) c.2435T>A (p.Leu812Gln) c.2408T>A (p.Leu803Gln) | |
| 7 | g.150948864G>A | CA458645116 | KCNH2 | n.3417C>T c.2584C>T (p.Leu862=) c.1564C>T (p.Leu522=) c.2284C>T (p.Leu762=) c.2434C>T (p.Leu812=) c.2407C>T (p.Leu803=) | ClinVar dbSNP |
| 7 | g.150948864G>C | CA369854692 | KCNH2 | n.3417C>G c.2584C>G (p.Leu862Val) c.1564C>G (p.Leu522Val) c.2284C>G (p.Leu762Val) c.2434C>G (p.Leu812Val) c.2407C>G (p.Leu803Val) | |
| 7 | g.150948864G= | CA1752431826 | KCNH2 | n.3417C= c.2584C= (p.Leu862=) c.1564C= (p.Leu522=) c.2284C= (p.Leu762=) c.2434C= (p.Leu812=) c.2407C= (p.Leu803=) | |
| 7 | g.150948864G>T | CA369854694 | KCNH2 | n.3417C>A c.2584C>A (p.Leu862Met) c.1564C>A (p.Leu522Met) c.2284C>A (p.Leu762Met) c.2434C>A (p.Leu812Met) c.2407C>A (p.Leu803Met) | |
| 7 | g.150948865G>A | CA458645117 | KCNH2 | n.3416C>T c.2583C>T (p.Asn861=) c.1563C>T (p.Asn521=) c.2283C>T (p.Asn761=) c.2433C>T (p.Asn811=) c.2406C>T (p.Asn802=) | |
| 7 | g.150948865G>C | CA369854696 | KCNH2 | n.3416C>G c.2583C>G (p.Asn861Lys) c.1563C>G (p.Asn521Lys) c.2283C>G (p.Asn761Lys) c.2433C>G (p.Asn811Lys) c.2406C>G (p.Asn802Lys) | |
| 7 | g.150948865G>T | CA369854698 | KCNH2 | n.3416C>A c.2583C>A (p.Asn861Lys) c.1563C>A (p.Asn521Lys) c.2283C>A (p.Asn761Lys) c.2433C>A (p.Asn811Lys) c.2406C>A (p.Asn802Lys) | |
| 7 | g.150948866T>A | CA007008 | KCNH2 | n.3415A>T c.2582A>T (p.Asn861Ile) c.1562A>T (p.Asn521Ile) c.2282A>T (p.Asn761Ile) c.2432A>T (p.Asn811Ile) c.2405A>T (p.Asn802Ile) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948866T>C | CA006998 | KCNH2 | n.3415A>G c.2582A>G (p.Asn861Ser) c.1562A>G (p.Asn521Ser) c.2282A>G (p.Asn761Ser) c.2432A>G (p.Asn811Ser) c.2405A>G (p.Asn802Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150948866T>G | CA006990 | KCNH2 | n.3415A>C c.2582A>C (p.Asn861Thr) c.1562A>C (p.Asn521Thr) c.2282A>C (p.Asn761Thr) c.2432A>C (p.Asn811Thr) c.2405A>C (p.Asn802Thr) | ClinVar dbSNP |
| 7 | g.150948866T= | CA1752431832 | KCNH2 | n.3415A= c.2582A= (p.Asn861=) c.1562A= (p.Asn521=) c.2282A= (p.Asn761=) c.2432A= (p.Asn811=) c.2405A= (p.Asn802=) | |
| 7 | g.150948867T>A | CA369854703 | KCNH2 | n.3414A>T c.2581A>T (p.Asn861Tyr) c.1561A>T (p.Asn521Tyr) c.2281A>T (p.Asn761Tyr) c.2431A>T (p.Asn811Tyr) c.2404A>T (p.Asn802Tyr) | |
| 7 | g.150948867T>C | CA369854705 | KCNH2 | n.3414A>G c.2581A>G (p.Asn861Asp) c.1561A>G (p.Asn521Asp) c.2281A>G (p.Asn761Asp) c.2431A>G (p.Asn811Asp) c.2404A>G (p.Asn802Asp) | |
| 7 | g.150948867T>G | CA006978 | KCNH2 | n.3414A>C c.2581A>C (p.Asn861His) c.1561A>C (p.Asn521His) c.2281A>C (p.Asn761His) c.2431A>C (p.Asn811His) c.2404A>C (p.Asn802His) | ClinVar dbSNP |
| 7 | g.150948867T= | CA1752431837 | KCNH2 | n.3414A= c.2581A= (p.Asn861=) c.1561A= (p.Asn521=) c.2281A= (p.Asn761=) c.2431A= (p.Asn811=) c.2404A= (p.Asn802=) | |
| 7 | g.150948868G>A | CA458645118 | KCNH2 | n.3413C>T c.2580C>T (p.Phe860=) c.1560C>T (p.Phe520=) c.2280C>T (p.Phe760=) c.2430C>T (p.Phe810=) c.2403C>T (p.Phe801=) | |
| 7 | g.150948868G>C | CA369854707 | KCNH2 | n.3413C>G c.2580C>G (p.Phe860Leu) c.1560C>G (p.Phe520Leu) c.2280C>G (p.Phe760Leu) c.2430C>G (p.Phe810Leu) c.2403C>G (p.Phe801Leu) | |
| 7 | g.150948868G>T | CA369854709 | KCNH2 | n.3413C>A c.2580C>A (p.Phe860Leu) c.1560C>A (p.Phe520Leu) c.2280C>A (p.Phe760Leu) c.2430C>A (p.Phe810Leu) c.2403C>A (p.Phe801Leu) | |
| 7 | g.150948869A>C | CA369854711 | KCNH2 | n.3412T>G c.2579T>G (p.Phe860Cys) c.1559T>G (p.Phe520Cys) c.2279T>G (p.Phe760Cys) c.2429T>G (p.Phe810Cys) c.2402T>G (p.Phe801Cys) | |
| 7 | g.150948869A>G | CA369854713 | KCNH2 | n.3412T>C c.2579T>C (p.Phe860Ser) c.1559T>C (p.Phe520Ser) c.2279T>C (p.Phe760Ser) c.2429T>C (p.Phe810Ser) c.2402T>C (p.Phe801Ser) | |
| 7 | g.150948869A>T | CA369854715 | KCNH2 | n.3412T>A c.2579T>A (p.Phe860Tyr) c.1559T>A (p.Phe520Tyr) c.2279T>A (p.Phe760Tyr) c.2429T>A (p.Phe810Tyr) c.2402T>A (p.Phe801Tyr) | |
| 7 | g.150948870A>C | CA369854716 | KCNH2 | n.3411T>G c.2578T>G (p.Phe860Val) c.1558T>G (p.Phe520Val) c.2278T>G (p.Phe760Val) c.2428T>G (p.Phe810Val) c.2401T>G (p.Phe801Val) |