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.150948940G>A | CA169074781 | KCNH2 | n.3341C>T c.2508C>T (p.Asp836=) c.1488C>T (p.Asp496=) c.2208C>T (p.Asp736=) c.2358C>T (p.Asp786=) c.2331C>T (p.Asp777=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948940G>C | CA369855012 | KCNH2 | n.3341C>G c.2508C>G (p.Asp836Glu) c.1488C>G (p.Asp496Glu) c.2208C>G (p.Asp736Glu) c.2358C>G (p.Asp786Glu) c.2331C>G (p.Asp777Glu) | ClinVar |
| 7 | g.150948940G= | CA1752431947 | KCNH2 | n.3341C= c.2508C= (p.Asp836=) c.1488C= (p.Asp496=) c.2208C= (p.Asp736=) c.2358C= (p.Asp786=) c.2331C= (p.Asp777=) | |
| 7 | g.150948940G>T | CA369855014 | KCNH2 | n.3341C>A c.2508C>A (p.Asp836Glu) c.1488C>A (p.Asp496Glu) c.2208C>A (p.Asp736Glu) c.2358C>A (p.Asp786Glu) c.2331C>A (p.Asp777Glu) | |
| 7 | g.150948941T>A | CA369855017 | KCNH2 | n.3340A>T c.2507A>T (p.Asp836Val) c.1487A>T (p.Asp496Val) c.2207A>T (p.Asp736Val) c.2357A>T (p.Asp786Val) c.2330A>T (p.Asp777Val) | |
| 7 | g.150948941T>C | CA369855021 | KCNH2 | n.3340A>G c.2507A>G (p.Asp836Gly) c.1487A>G (p.Asp496Gly) c.2207A>G (p.Asp736Gly) c.2357A>G (p.Asp786Gly) c.2330A>G (p.Asp777Gly) | |
| 7 | g.150948941T>G | CA369855019 | KCNH2 | n.3340A>C c.2507A>C (p.Asp836Ala) c.1487A>C (p.Asp496Ala) c.2207A>C (p.Asp736Ala) c.2357A>C (p.Asp786Ala) c.2330A>C (p.Asp777Ala) | |
| 7 | g.150948942C>A | CA369855023 | KCNH2 | n.3339G>T c.2506G>T (p.Asp836Tyr) c.1486G>T (p.Asp496Tyr) c.2206G>T (p.Asp736Tyr) c.2356G>T (p.Asp786Tyr) c.2329G>T (p.Asp777Tyr) | |
| 7 | g.150948942C>G | CA369855024 | KCNH2 | n.3339G>C c.2506G>C (p.Asp836His) c.1486G>C (p.Asp496His) c.2206G>C (p.Asp736His) c.2356G>C (p.Asp786His) c.2329G>C (p.Asp777His) | |
| 7 | g.150948942C>T | CA369855026 | KCNH2 | n.3339G>A c.2506G>A (p.Asp836Asn) c.1486G>A (p.Asp496Asn) c.2206G>A (p.Asp736Asn) c.2356G>A (p.Asp786Asn) c.2329G>A (p.Asp777Asn) | |
| 7 | g.150948944_150948980del | CA645565632 | KCNH2 | n.3303_3339del c.2470_2506del (p.Ala824ThrfsTer?) c.1450_1486del (p.Ala484ThrfsTer?) c.2170_2206del (p.Ala724ThrfsTer?) c.2320_2356del (p.Ala774ThrfsTer?) c.2293_2329del (p.Ala765ThrfsTer?) | COSMIC COSMIC |
| 7 | g.150948943C>A | CA458645159 | KCNH2 | n.3338G>T c.2505G>T (p.Arg835=) c.1485G>T (p.Arg495=) c.2205G>T (p.Arg735=) c.2355G>T (p.Arg785=) c.2328G>T (p.Arg776=) | |
| 7 | g.150948943C>G | CA458645160 | KCNH2 | n.3338G>C c.2505G>C (p.Arg835=) c.1485G>C (p.Arg495=) c.2205G>C (p.Arg735=) c.2355G>C (p.Arg785=) c.2328G>C (p.Arg776=) | |
| 7 | g.150948943C>T | CA458645161 | KCNH2 | n.3338G>A c.2505G>A (p.Arg835=) c.1485G>A (p.Arg495=) c.2205G>A (p.Arg735=) c.2355G>A (p.Arg785=) c.2328G>A (p.Arg776=) | |
| 7 | g.150948944C>A | CA369855028 | KCNH2 | n.3337G>T c.2504G>T (p.Arg835Leu) c.1484G>T (p.Arg495Leu) c.2204G>T (p.Arg735Leu) c.2354G>T (p.Arg785Leu) c.2327G>T (p.Arg776Leu) | |
| 7 | g.150948944C= | CA1752431953 | KCNH2 | n.3337G= c.2504G= (p.Arg835=) c.1484G= (p.Arg495=) c.2204G= (p.Arg735=) c.2354G= (p.Arg785=) c.2327G= (p.Arg776=) | |
| 7 | g.150948944C>G | CA369855030 | KCNH2 | n.3337G>C c.2504G>C (p.Arg835Pro) c.1484G>C (p.Arg495Pro) c.2204G>C (p.Arg735Pro) c.2354G>C (p.Arg785Pro) c.2327G>C (p.Arg776Pro) | |
| 7 | g.150948944C>T | CA006860 | KCNH2 | n.3337G>A c.2504G>A (p.Arg835Gln) c.1484G>A (p.Arg495Gln) c.2204G>A (p.Arg735Gln) c.2354G>A (p.Arg785Gln) c.2327G>A (p.Arg776Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948945del | CA2695208826 | KCNH2 | n.3336del c.2503del (p.Arg835GlyfsTer?) c.1483del (p.Arg495GlyfsTer?) c.2203del (p.Arg735GlyfsTer?) c.2353del (p.Arg785GlyfsTer?) c.2326del (p.Arg776GlyfsTer?) | |
| 7 | g.150948945G>A | CA006850 | KCNH2 | n.3336C>T c.2503C>T (p.Arg835Trp) c.1483C>T (p.Arg495Trp) c.2203C>T (p.Arg735Trp) c.2353C>T (p.Arg785Trp) c.2326C>T (p.Arg776Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948945G>C | CA369855034 | KCNH2 | n.3336C>G c.2503C>G (p.Arg835Gly) c.1483C>G (p.Arg495Gly) c.2203C>G (p.Arg735Gly) c.2353C>G (p.Arg785Gly) c.2326C>G (p.Arg776Gly) | |
| 7 | g.150948945G= | CA1752431955 | KCNH2 | n.3336C= c.2503C= (p.Arg835=) c.1483C= (p.Arg495=) c.2203C= (p.Arg735=) c.2353C= (p.Arg785=) c.2326C= (p.Arg776=) | |
| 7 | g.150948945G>T | CA458645162 | KCNH2 | n.3336C>A c.2503C>A (p.Arg835=) c.1483C>A (p.Arg495=) c.2203C>A (p.Arg735=) c.2353C>A (p.Arg785=) c.2326C>A (p.Arg776=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150948946A>C | CA369855035 | KCNH2 | n.3335T>G c.2502T>G (p.His834Gln) c.1482T>G (p.His494Gln) c.2202T>G (p.His734Gln) c.2352T>G (p.His784Gln) c.2325T>G (p.His775Gln) | |
| 7 | g.150948946A>G | CA458645163 | KCNH2 | n.3335T>C c.2502T>C (p.His834=) c.1482T>C (p.His494=) c.2202T>C (p.His734=) c.2352T>C (p.His784=) c.2325T>C (p.His775=) | |
| 7 | g.150948946A>T | CA369855038 | KCNH2 | n.3335T>A c.2502T>A (p.His834Gln) c.1482T>A (p.His494Gln) c.2202T>A (p.His734Gln) c.2352T>A (p.His784Gln) c.2325T>A (p.His775Gln) | |
| 7 | g.150948947T>A | CA369855040 | KCNH2 | n.3334A>T c.2501A>T (p.His834Leu) c.1481A>T (p.His494Leu) c.2201A>T (p.His734Leu) c.2351A>T (p.His784Leu) c.2324A>T (p.His775Leu) | |
| 7 | g.150948947T>C | CA032931 | KCNH2 | n.3334A>G c.2501A>G (p.His834Arg) c.1481A>G (p.His494Arg) c.2201A>G (p.His734Arg) c.2351A>G (p.His784Arg) c.2324A>G (p.His775Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150948947T>G | CA369855042 | KCNH2 | n.3334A>C c.2501A>C (p.His834Pro) c.1481A>C (p.His494Pro) c.2201A>C (p.His734Pro) c.2351A>C (p.His784Pro) c.2324A>C (p.His775Pro) | |
| 7 | g.150948947T= | CA1752431958 | KCNH2 | n.3334A= c.2501A= (p.His834=) c.1481A= (p.His494=) c.2201A= (p.His734=) c.2351A= (p.His784=) c.2324A= (p.His775=) | |
| 7 | g.150948948G>A | CA369855044 | KCNH2 | n.3333C>T c.2500C>T (p.His834Tyr) c.1480C>T (p.His494Tyr) c.2200C>T (p.His734Tyr) c.2350C>T (p.His784Tyr) c.2323C>T (p.His775Tyr) | ClinVar dbSNP |
| 7 | g.150948948G>C | CA369855048 | KCNH2 | n.3333C>G c.2500C>G (p.His834Asp) c.1480C>G (p.His494Asp) c.2200C>G (p.His734Asp) c.2350C>G (p.His784Asp) c.2323C>G (p.His775Asp) | |
| 7 | g.150948948G= | CA1752431960 | KCNH2 | n.3333C= c.2500C= (p.His834=) c.1480C= (p.His494=) c.2200C= (p.His734=) c.2350C= (p.His784=) c.2323C= (p.His775=) | |
| 7 | g.150948948G>T | CA369855046 | KCNH2 | n.3333C>A c.2500C>A (p.His834Asn) c.1480C>A (p.His494Asn) c.2200C>A (p.His734Asn) c.2350C>A (p.His784Asn) c.2323C>A (p.His775Asn) | |
| 7 | g.150948949G>A | CA458645165 | KCNH2 | n.3332C>T c.2499C>T (p.Ile833=) c.1479C>T (p.Ile493=) c.2199C>T (p.Ile733=) c.2349C>T (p.Ile783=) c.2322C>T (p.Ile774=) | |
| 7 | g.150948949G>C | CA369855050 | KCNH2 | n.3332C>G c.2499C>G (p.Ile833Met) c.1479C>G (p.Ile493Met) c.2199C>G (p.Ile733Met) c.2349C>G (p.Ile783Met) c.2322C>G (p.Ile774Met) | |
| 7 | g.150948949G>T | CA458645166 | KCNH2 | n.3332C>A c.2499C>A (p.Ile833=) c.1479C>A (p.Ile493=) c.2199C>A (p.Ile733=) c.2349C>A (p.Ile783=) c.2322C>A (p.Ile774=) | |
| 7 | g.150948950A>C | CA369855051 | KCNH2 | n.3331T>G c.2498T>G (p.Ile833Ser) c.1478T>G (p.Ile493Ser) c.2198T>G (p.Ile733Ser) c.2348T>G (p.Ile783Ser) c.2321T>G (p.Ile774Ser) | |
| 7 | g.150948950A>G | CA369855053 | KCNH2 | n.3331T>C c.2498T>C (p.Ile833Thr) c.1478T>C (p.Ile493Thr) c.2198T>C (p.Ile733Thr) c.2348T>C (p.Ile783Thr) c.2321T>C (p.Ile774Thr) | |
| 7 | g.150948950A>T | CA369855054 | KCNH2 | n.3331T>A c.2498T>A (p.Ile833Asn) c.1478T>A (p.Ile493Asn) c.2198T>A (p.Ile733Asn) c.2348T>A (p.Ile783Asn) c.2321T>A (p.Ile774Asn) | |
| 7 | g.150948951T>A | CA369855055 | KCNH2 | n.3330A>T c.2497A>T (p.Ile833Phe) c.1477A>T (p.Ile493Phe) c.2197A>T (p.Ile733Phe) c.2347A>T (p.Ile783Phe) c.2320A>T (p.Ile774Phe) | |
| 7 | g.150948951T>C | CA369855057 | KCNH2 | n.3330A>G c.2497A>G (p.Ile833Val) c.1477A>G (p.Ile493Val) c.2197A>G (p.Ile733Val) c.2347A>G (p.Ile783Val) c.2320A>G (p.Ile774Val) | |
| 7 | g.150948951T>G | CA369855058 | KCNH2 | n.3330A>C c.2497A>C (p.Ile833Leu) c.1477A>C (p.Ile493Leu) c.2197A>C (p.Ile733Leu) c.2347A>C (p.Ile783Leu) c.2320A>C (p.Ile774Leu) | |
| 7 | g.150948952C>A | CA369855059 | KCNH2 | n.3329G>T c.2496G>T (p.Lys832Asn) c.1476G>T (p.Lys492Asn) c.2196G>T (p.Lys732Asn) c.2346G>T (p.Lys782Asn) c.2319G>T (p.Lys773Asn) | |
| 7 | g.150948952C>G | CA369855060 | KCNH2 | n.3329G>C c.2496G>C (p.Lys832Asn) c.1476G>C (p.Lys492Asn) c.2196G>C (p.Lys732Asn) c.2346G>C (p.Lys782Asn) c.2319G>C (p.Lys773Asn) | |
| 7 | g.150948952C>T | CA458645167 | KCNH2 | n.3329G>A c.2496G>A (p.Lys832=) c.1476G>A (p.Lys492=) c.2196G>A (p.Lys732=) c.2346G>A (p.Lys782=) c.2319G>A (p.Lys773=) | |
| 7 | g.150948953T>A | CA369855066 | KCNH2 | n.3328A>T c.2495A>T (p.Lys832Met) c.1475A>T (p.Lys492Met) c.2195A>T (p.Lys732Met) c.2345A>T (p.Lys782Met) c.2318A>T (p.Lys773Met) | |
| 7 | g.150948953T>C | CA369855064 | KCNH2 | n.3328A>G c.2495A>G (p.Lys832Arg) c.1475A>G (p.Lys492Arg) c.2195A>G (p.Lys732Arg) c.2345A>G (p.Lys782Arg) c.2318A>G (p.Lys773Arg) | |
| 7 | g.150948953T>G | CA369855062 | KCNH2 | n.3328A>C c.2495A>C (p.Lys832Thr) c.1475A>C (p.Lys492Thr) c.2195A>C (p.Lys732Thr) c.2345A>C (p.Lys782Thr) c.2318A>C (p.Lys773Thr) |