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.150948964_150949161del | CA2573141856 | KCNH2 | n.3232-108_3321del c.2399-108_2488del c.1379-108_1468del c.2099-108_2188del c.2249-108_2338del c.2222-108_2311del | ClinVar dbSNP |
| 7 | g.150949035del | CA16618404 | KCNH2 | n.3248del c.2415del (p.Phe805LeufsTer5) c.1395del (p.Phe465LeufsTer5) c.2115del (p.Phe705LeufsTer5) c.2265del (p.Phe755LeufsTer5) c.2238del (p.Phe746LeufsTer5) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150949034A= | CA1752432085 | KCNH2 | n.3247T= c.2414T= (p.Phe805=) c.1394T= (p.Phe465=) c.2114T= (p.Phe705=) c.2264T= (p.Phe755=) c.2237T= (p.Phe746=) | |
| 7 | g.150949034A>C | CA006712 | KCNH2 | n.3247T>G c.2414T>G (p.Phe805Cys) c.1394T>G (p.Phe465Cys) c.2114T>G (p.Phe705Cys) c.2264T>G (p.Phe755Cys) c.2237T>G (p.Phe746Cys) | ClinVar dbSNP |
| 7 | g.150949034A>G | CA006704 | KCNH2 | n.3247T>C c.2414T>C (p.Phe805Ser) c.1394T>C (p.Phe465Ser) c.2114T>C (p.Phe705Ser) c.2264T>C (p.Phe755Ser) c.2237T>C (p.Phe746Ser) | ClinVar dbSNP |
| 7 | g.150949034A>T | CA369855370 | KCNH2 | n.3247T>A c.2414T>A (p.Phe805Tyr) c.1394T>A (p.Phe465Tyr) c.2114T>A (p.Phe705Tyr) c.2264T>A (p.Phe755Tyr) c.2237T>A (p.Phe746Tyr) | |
| 7 | g.150949035A>C | CA369855371 | KCNH2 | n.3246T>G c.2413T>G (p.Phe805Val) c.1393T>G (p.Phe465Val) c.2113T>G (p.Phe705Val) c.2263T>G (p.Phe755Val) c.2236T>G (p.Phe746Val) | |
| 7 | g.150949035A>G | CA369855372 | KCNH2 | n.3246T>C c.2413T>C (p.Phe805Leu) c.1393T>C (p.Phe465Leu) c.2113T>C (p.Phe705Leu) c.2263T>C (p.Phe755Leu) c.2236T>C (p.Phe746Leu) | |
| 7 | g.150949035A>T | CA369855373 | KCNH2 | n.3246T>A c.2413T>A (p.Phe805Ile) c.1393T>A (p.Phe465Ile) c.2113T>A (p.Phe705Ile) c.2263T>A (p.Phe755Ile) c.2236T>A (p.Phe746Ile) | |
| 7 | g.150949036G>A | CA458645219 | KCNH2 | n.3245C>T c.2412C>T (p.Ile804=) c.1392C>T (p.Ile464=) c.2112C>T (p.Ile704=) c.2262C>T (p.Ile754=) c.2235C>T (p.Ile745=) | |
| 7 | g.150949036G>C | CA369855374 | KCNH2 | n.3245C>G c.2412C>G (p.Ile804Met) c.1392C>G (p.Ile464Met) c.2112C>G (p.Ile704Met) c.2262C>G (p.Ile754Met) c.2235C>G (p.Ile745Met) | |
| 7 | g.150949036G= | CA1752432090 | KCNH2 | n.3245C= c.2412C= (p.Ile804=) c.1392C= (p.Ile464=) c.2112C= (p.Ile704=) c.2262C= (p.Ile754=) c.2235C= (p.Ile745=) | |
| 7 | g.150949036G>T | CA032681 | KCNH2 | n.3245C>A c.2412C>A (p.Ile804=) c.1392C>A (p.Ile464=) c.2112C>A (p.Ile704=) c.2262C>A (p.Ile754=) c.2235C>A (p.Ile745=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150949037A>C | CA369855375 | KCNH2 | n.3244T>G c.2411T>G (p.Ile804Ser) c.1391T>G (p.Ile464Ser) c.2111T>G (p.Ile704Ser) c.2261T>G (p.Ile754Ser) c.2234T>G (p.Ile745Ser) | |
| 7 | g.150949037A>G | CA369855376 | KCNH2 | n.3244T>C c.2411T>C (p.Ile804Thr) c.1391T>C (p.Ile464Thr) c.2111T>C (p.Ile704Thr) c.2261T>C (p.Ile754Thr) c.2234T>C (p.Ile745Thr) | |
| 7 | g.150949037A>T | CA369855377 | KCNH2 | n.3244T>A c.2411T>A (p.Ile804Asn) c.1391T>A (p.Ile464Asn) c.2111T>A (p.Ile704Asn) c.2261T>A (p.Ile754Asn) c.2234T>A (p.Ile745Asn) | |
| 7 | g.150949038T>A | CA369855378 | KCNH2 | n.3243A>T c.2410A>T (p.Ile804Phe) c.1390A>T (p.Ile464Phe) c.2110A>T (p.Ile704Phe) c.2260A>T (p.Ile754Phe) c.2233A>T (p.Ile745Phe) | |
| 7 | g.150949038T>C | CA369855379 | KCNH2 | n.3243A>G c.2410A>G (p.Ile804Val) c.1390A>G (p.Ile464Val) c.2110A>G (p.Ile704Val) c.2260A>G (p.Ile754Val) c.2233A>G (p.Ile745Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150949038T>G | CA369855380 | KCNH2 | n.3243A>C c.2410A>C (p.Ile804Leu) c.1390A>C (p.Ile464Leu) c.2110A>C (p.Ile704Leu) c.2260A>C (p.Ile754Leu) c.2233A>C (p.Ile745Leu) | |
| 7 | g.150949038T= | CA1752432093 | KCNH2 | n.3243A= c.2410A= (p.Ile804=) c.1390A= (p.Ile464=) c.2110A= (p.Ile704=) c.2260A= (p.Ile754=) c.2233A= (p.Ile745=) | |
| 7 | g.150949038_150949041delinsTGTC | CA1752432094 | KCNH2 | n.3240_3243delinsGACA c.2407_2410delinsGACA (p.Asp803=) c.1387_1390delinsGACA (p.Asp463=) c.2107_2110delinsGACA (p.Asp703=) c.2257_2260delinsGACA (p.Asp753=) c.2230_2233delinsGACA (p.Asp744=) | |
| 7 | g.150949039G>A | CA032653 | KCNH2 | n.3242C>T c.2409C>T (p.Asp803=) c.1389C>T (p.Asp463=) c.2109C>T (p.Asp703=) c.2259C>T (p.Asp753=) c.2232C>T (p.Asp744=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150949039G>C | CA369855382 | KCNH2 | n.3242C>G c.2409C>G (p.Asp803Glu) c.1389C>G (p.Asp463Glu) c.2109C>G (p.Asp703Glu) c.2259C>G (p.Asp753Glu) c.2232C>G (p.Asp744Glu) | |
| 7 | g.150949039G= | CA1752432097 | KCNH2 | n.3242C= c.2409C= (p.Asp803=) c.1389C= (p.Asp463=) c.2109C= (p.Asp703=) c.2259C= (p.Asp753=) c.2232C= (p.Asp744=) | |
| 7 | g.150949039G>T | CA369855381 | KCNH2 | n.3242C>A c.2409C>A (p.Asp803Glu) c.1389C>A (p.Asp463Glu) c.2109C>A (p.Asp703Glu) c.2259C>A (p.Asp753Glu) c.2232C>A (p.Asp744Glu) | |
| 7 | g.150949039_150949041del | CA916080386 | KCNH2 | n.3240_3242del c.2407_2409del (p.Asp803del) c.1387_1389del (p.Asp463del) c.2107_2109del (p.Asp703del) c.2257_2259del (p.Asp753del) c.2230_2232del (p.Asp744del) | ClinVar dbSNP |
| 7 | g.150949040T>A | CA369855383 | KCNH2 | n.3241A>T c.2408A>T (p.Asp803Val) c.1388A>T (p.Asp463Val) c.2108A>T (p.Asp703Val) c.2258A>T (p.Asp753Val) c.2231A>T (p.Asp744Val) | |
| 7 | g.150949040T>C | CA369855384 | KCNH2 | n.3241A>G c.2408A>G (p.Asp803Gly) c.1388A>G (p.Asp463Gly) c.2108A>G (p.Asp703Gly) c.2258A>G (p.Asp753Gly) c.2231A>G (p.Asp744Gly) | |
| 7 | g.150949040T>G | CA369855385 | KCNH2 | n.3241A>C c.2408A>C (p.Asp803Ala) c.1388A>C (p.Asp463Ala) c.2108A>C (p.Asp703Ala) c.2258A>C (p.Asp753Ala) c.2231A>C (p.Asp744Ala) | |
| 7 | g.150949041C>A | CA369855386 | KCNH2 | n.3240G>T c.2407G>T (p.Asp803Tyr) c.1387G>T (p.Asp463Tyr) c.2107G>T (p.Asp703Tyr) c.2257G>T (p.Asp753Tyr) c.2230G>T (p.Asp744Tyr) | |
| 7 | g.150949041C>G | CA369855387 | KCNH2 | n.3240G>C c.2407G>C (p.Asp803His) c.1387G>C (p.Asp463His) c.2107G>C (p.Asp703His) c.2257G>C (p.Asp753His) c.2230G>C (p.Asp744His) | |
| 7 | g.150949041C>T | CA369855388 | KCNH2 | n.3240G>A c.2407G>A (p.Asp803Asn) c.1387G>A (p.Asp463Asn) c.2107G>A (p.Asp703Asn) c.2257G>A (p.Asp753Asn) c.2230G>A (p.Asp744Asn) | COSMIC COSMIC |
| 7 | g.150949042A>C | CA369855389 | KCNH2 | n.3239T>G c.2406T>G (p.Asn802Lys) c.1386T>G (p.Asn462Lys) c.2106T>G (p.Asn702Lys) c.2256T>G (p.Asn752Lys) c.2229T>G (p.Asn743Lys) | |
| 7 | g.150949042A>G | CA458645220 | KCNH2 | n.3239T>C c.2406T>C (p.Asn802=) c.1386T>C (p.Asn462=) c.2106T>C (p.Asn702=) c.2256T>C (p.Asn752=) c.2229T>C (p.Asn743=) | |
| 7 | g.150949042A>T | CA369855390 | KCNH2 | n.3239T>A c.2406T>A (p.Asn802Lys) c.1386T>A (p.Asn462Lys) c.2106T>A (p.Asn702Lys) c.2256T>A (p.Asn752Lys) c.2229T>A (p.Asn743Lys) | |
| 7 | g.150949043T>A | CA369855391 | KCNH2 | n.3238A>T c.2405A>T (p.Asn802Ile) c.1385A>T (p.Asn462Ile) c.2105A>T (p.Asn702Ile) c.2255A>T (p.Asn752Ile) c.2228A>T (p.Asn743Ile) | |
| 7 | g.150949043T>C | CA337238 | KCNH2 | n.3238A>G c.2405A>G (p.Asn802Ser) c.1385A>G (p.Asn462Ser) c.2105A>G (p.Asn702Ser) c.2255A>G (p.Asn752Ser) c.2228A>G (p.Asn743Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150949043T>G | CA369855392 | KCNH2 | n.3238A>C c.2405A>C (p.Asn802Thr) c.1385A>C (p.Asn462Thr) c.2105A>C (p.Asn702Thr) c.2255A>C (p.Asn752Thr) c.2228A>C (p.Asn743Thr) | |
| 7 | g.150949043T= | CA1752432101 | KCNH2 | n.3238A= c.2405A= (p.Asn802=) c.1385A= (p.Asn462=) c.2105A= (p.Asn702=) c.2255A= (p.Asn752=) c.2228A= (p.Asn743=) | |
| 7 | g.150949044T>A | CA369855394 | KCNH2 | n.3237A>T c.2404A>T (p.Asn802Tyr) c.1384A>T (p.Asn462Tyr) c.2104A>T (p.Asn702Tyr) c.2254A>T (p.Asn752Tyr) c.2227A>T (p.Asn743Tyr) | |
| 7 | g.150949044T>C | CA169074939 | KCNH2 | n.3237A>G c.2404A>G (p.Asn802Asp) c.1384A>G (p.Asn462Asp) c.2104A>G (p.Asn702Asp) c.2254A>G (p.Asn752Asp) c.2227A>G (p.Asn743Asp) | dbSNP |
| 7 | g.150949044T>G | CA369855393 | KCNH2 | n.3237A>C c.2404A>C (p.Asn802His) c.1384A>C (p.Asn462His) c.2104A>C (p.Asn702His) c.2254A>C (p.Asn752His) c.2227A>C (p.Asn743His) | |
| 7 | g.150949044T= | CA1752432105 | KCNH2 | n.3237A= c.2404A= (p.Asn802=) c.1384A= (p.Asn462=) c.2104A= (p.Asn702=) c.2254A= (p.Asn752=) c.2227A= (p.Asn743=) | |
| 7 | g.150949045C>A | CA369855395 | KCNH2 | n.3236G>T c.2403G>T (p.Lys801Asn) c.1383G>T (p.Lys461Asn) c.2103G>T (p.Lys701Asn) c.2253G>T (p.Lys751Asn) c.2226G>T (p.Lys742Asn) | |
| 7 | g.150949045C>G | CA369855396 | KCNH2 | n.3236G>C c.2403G>C (p.Lys801Asn) c.1383G>C (p.Lys461Asn) c.2103G>C (p.Lys701Asn) c.2253G>C (p.Lys751Asn) c.2226G>C (p.Lys742Asn) | |
| 7 | g.150949045C>T | CA458645221 | KCNH2 | n.3236G>A c.2403G>A (p.Lys801=) c.1383G>A (p.Lys461=) c.2103G>A (p.Lys701=) c.2253G>A (p.Lys751=) c.2226G>A (p.Lys742=) | |
| 7 | g.150949046T>A | CA369855397 | KCNH2 | n.3235A>T c.2402A>T (p.Lys801Met) c.1382A>T (p.Lys461Met) c.2102A>T (p.Lys701Met) c.2252A>T (p.Lys751Met) c.2225A>T (p.Lys742Met) | |
| 7 | g.150949046T>C | CA369855399 | KCNH2 | n.3235A>G c.2402A>G (p.Lys801Arg) c.1382A>G (p.Lys461Arg) c.2102A>G (p.Lys701Arg) c.2252A>G (p.Lys751Arg) c.2225A>G (p.Lys742Arg) | |
| 7 | g.150949046T>G | CA369855398 | KCNH2 | n.3235A>C c.2402A>C (p.Lys801Thr) c.1382A>C (p.Lys461Thr) c.2102A>C (p.Lys701Thr) c.2252A>C (p.Lys751Thr) c.2225A>C (p.Lys742Thr) |