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 |
|---|---|---|---|---|---|
| 11 | g.2775998_2776004delinsGCAGTAC | CA1948314039 | KCNQ1 | c.1272_1278delinsGCAGTAC (p.Glu424=) c.1089_1095delinsGCAGTAC (p.Glu363=) c.1629_1635delinsGCAGTAC (p.Glu543=) c.1248_1254delinsGCAGTAC (p.Glu416=) c.735_741delinsGCAGTAC (p.Glu245=) | |
| 11 | g.2775999C>A | CA379139139 | KCNQ1 | c.1273C>A (p.Gln425Lys) c.1090C>A (p.Gln364Lys) c.1630C>A (p.Gln544Lys) c.1249C>A (p.Gln417Lys) c.736C>A (p.Gln246Lys) | ClinVar gnomAD v4 |
| 11 | g.2775999C= | CA1948314040 | KCNQ1 | c.1273C= (p.Gln425=) c.1090C= (p.Gln364=) c.1630C= (p.Gln544=) c.1249C= (p.Gln417=) c.736C= (p.Gln246=) | |
| 11 | g.2775999C>G | CA379139137 | KCNQ1 | c.1273C>G (p.Gln425Glu) c.1090C>G (p.Gln364Glu) c.1630C>G (p.Gln544Glu) c.1249C>G (p.Gln417Glu) c.736C>G (p.Gln246Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2775999C>T | CA379139138 | KCNQ1 | c.1273C>T (p.Gln425Ter) c.1090C>T (p.Gln364Ter) c.1630C>T (p.Gln544Ter) c.1249C>T (p.Gln417Ter) c.736C>T (p.Gln246Ter) | gnomAD v4 |
| 11 | g.2775999_2776004delinsGTTGAGA | CA252578 | KCNQ1 | c.1273_1278delinsGTTGAGA (p.Gln425ValfsTer?) c.1090_1095delinsGTTGAGA (p.Gln364ValfsTer?) c.1630_1635delinsGTTGAGA (p.Gln544ValfsTer?) c.1249_1254delinsGTTGAGA (p.Gln417ValfsTer?) c.736_741delinsGTTGAGA (p.Gln246ValfsTer?) | ClinVar dbSNP |
| 11 | g.2776000A= | CA1948314041 | KCNQ1 | c.1274A= (p.Gln425=) c.1091A= (p.Gln364=) c.1631A= (p.Gln544=) c.1250A= (p.Gln417=) c.737A= (p.Gln246=) | |
| 11 | g.2776000A>C | CA379139140 | KCNQ1 | c.1274A>C (p.Gln425Pro) c.1091A>C (p.Gln364Pro) c.1631A>C (p.Gln544Pro) c.1250A>C (p.Gln417Pro) c.737A>C (p.Gln246Pro) | dbSNP |
| 11 | g.2776000A>G | CA379139141 | KCNQ1 | c.1274A>G (p.Gln425Arg) c.1091A>G (p.Gln364Arg) c.1631A>G (p.Gln544Arg) c.1250A>G (p.Gln417Arg) c.737A>G (p.Gln246Arg) | |
| 11 | g.2776000A>T | CA006022 | KCNQ1 | c.1274A>T (p.Gln425Leu) c.1091A>T (p.Gln364Leu) c.1631A>T (p.Gln544Leu) c.1250A>T (p.Gln417Leu) c.737A>T (p.Gln246Leu) | ClinVar dbSNP |
| 11 | g.2776001G>A | CA472464537 | KCNQ1 | c.1275G>A (p.Gln425=) c.1092G>A (p.Gln364=) c.1632G>A (p.Gln544=) c.1251G>A (p.Gln417=) c.738G>A (p.Gln246=) | ClinVar gnomAD v4 |
| 11 | g.2776001G>C | CA379139142 | KCNQ1 | c.1275G>C (p.Gln425His) c.1092G>C (p.Gln364His) c.1632G>C (p.Gln544His) c.1251G>C (p.Gln417His) c.738G>C (p.Gln246His) | ClinVar dbSNP |
| 11 | g.2776001G= | CA1948314042 | KCNQ1 | c.1275G= (p.Gln425=) c.1092G= (p.Gln364=) c.1632G= (p.Gln544=) c.1251G= (p.Gln417=) c.738G= (p.Gln246=) | |
| 11 | g.2776001G>T | CA379139143 | KCNQ1 | c.1275G>T (p.Gln425His) c.1092G>T (p.Gln364His) c.1632G>T (p.Gln544His) c.1251G>T (p.Gln417His) c.738G>T (p.Gln246His) | gnomAD v4 |
| 11 | g.2776002T>A | CA379139144 | KCNQ1 | c.1276T>A (p.Tyr426Asn) c.1093T>A (p.Tyr365Asn) c.1633T>A (p.Tyr545Asn) c.1252T>A (p.Tyr418Asn) c.739T>A (p.Tyr247Asn) | gnomAD v4 |
| 11 | g.2776002T>C | CA379139145 | KCNQ1 | c.1276T>C (p.Tyr426His) c.1093T>C (p.Tyr365His) c.1633T>C (p.Tyr545His) c.1252T>C (p.Tyr418His) c.739T>C (p.Tyr247His) | gnomAD v4 |
| 11 | g.2776002T>G | CA379139146 | KCNQ1 | c.1276T>G (p.Tyr426Asp) c.1093T>G (p.Tyr365Asp) c.1633T>G (p.Tyr545Asp) c.1252T>G (p.Tyr418Asp) c.739T>G (p.Tyr247Asp) | |
| 11 | g.2776003A>C | CA379139147 | KCNQ1 | c.1277A>C (p.Tyr426Ser) c.1094A>C (p.Tyr365Ser) c.1634A>C (p.Tyr545Ser) c.1253A>C (p.Tyr418Ser) c.740A>C (p.Tyr247Ser) | gnomAD v4 |
| 11 | g.2776003A>G | CA379139148 | KCNQ1 | c.1277A>G (p.Tyr426Cys) c.1094A>G (p.Tyr365Cys) c.1634A>G (p.Tyr545Cys) c.1253A>G (p.Tyr418Cys) c.740A>G (p.Tyr247Cys) | gnomAD v4 |
| 11 | g.2776003A>T | CA379139149 | KCNQ1 | c.1277A>T (p.Tyr426Phe) c.1094A>T (p.Tyr365Phe) c.1634A>T (p.Tyr545Phe) c.1253A>T (p.Tyr418Phe) c.740A>T (p.Tyr247Phe) | ClinVar |
| 11 | g.2776004C>A | CA379139151 | KCNQ1 | c.1278C>A (p.Tyr426Ter) c.1095C>A (p.Tyr365Ter) c.1635C>A (p.Tyr545Ter) c.1254C>A (p.Tyr418Ter) c.741C>A (p.Tyr247Ter) | gnomAD v4 |
| 11 | g.2776004C= | CA1948314043 | KCNQ1 | c.1278C= (p.Tyr426=) c.1095C= (p.Tyr365=) c.1635C= (p.Tyr545=) c.1254C= (p.Tyr418=) c.741C= (p.Tyr247=) | |
| 11 | g.2776004C>G | CA379139150 | KCNQ1 | c.1278C>G (p.Tyr426Ter) c.1095C>G (p.Tyr365Ter) c.1635C>G (p.Tyr545Ter) c.1254C>G (p.Tyr418Ter) c.741C>G (p.Tyr247Ter) | |
| 11 | g.2776004C>T | CA472464547 | KCNQ1 | c.1278C>T (p.Tyr426=) c.1095C>T (p.Tyr365=) c.1635C>T (p.Tyr545=) c.1254C>T (p.Tyr418=) c.741C>T (p.Tyr247=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2776005T>A | CA379139152 | KCNQ1 | c.1279T>A (p.Ser427Thr) c.1096T>A (p.Ser366Thr) c.1636T>A (p.Ser546Thr) c.1255T>A (p.Ser419Thr) c.742T>A (p.Ser248Thr) | gnomAD v4 |
| 11 | g.2776005T>C | CA379139153 | KCNQ1 | c.1279T>C (p.Ser427Pro) c.1096T>C (p.Ser366Pro) c.1636T>C (p.Ser546Pro) c.1255T>C (p.Ser419Pro) c.742T>C (p.Ser248Pro) | gnomAD v4 |
| 11 | g.2776005T>G | CA379139154 | KCNQ1 | c.1279T>G (p.Ser427Ala) c.1096T>G (p.Ser366Ala) c.1636T>G (p.Ser546Ala) c.1255T>G (p.Ser419Ala) c.742T>G (p.Ser248Ala) | |
| 11 | g.2776006C>A | CA379139155 | KCNQ1 | c.1280C>A (p.Ser427Ter) c.1097C>A (p.Ser366Ter) c.1637C>A (p.Ser546Ter) c.1256C>A (p.Ser419Ter) c.743C>A (p.Ser248Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2776006C= | CA1948314044 | KCNQ1 | c.1280C= (p.Ser427=) c.1097C= (p.Ser366=) c.1637C= (p.Ser546=) c.1256C= (p.Ser419=) c.743C= (p.Ser248=) | |
| 11 | g.2776006C>G | CA379139156 | KCNQ1 | c.1280C>G (p.Ser427Trp) c.1097C>G (p.Ser366Trp) c.1637C>G (p.Ser546Trp) c.1256C>G (p.Ser419Trp) c.743C>G (p.Ser248Trp) | |
| 11 | g.2776006C>T | CA006028 | KCNQ1 | c.1280C>T (p.Ser427Leu) c.1097C>T (p.Ser366Leu) c.1637C>T (p.Ser546Leu) c.1256C>T (p.Ser419Leu) c.743C>T (p.Ser248Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2776007G>A | CA006032 | KCNQ1 | c.1281G>A (p.Ser427=) c.1098G>A (p.Ser366=) c.1638G>A (p.Ser546=) c.1257G>A (p.Ser419=) c.744G>A (p.Ser248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2776007G>C | CA472464559 | KCNQ1 | c.1281G>C (p.Ser427=) c.1098G>C (p.Ser366=) c.1638G>C (p.Ser546=) c.1257G>C (p.Ser419=) c.744G>C (p.Ser248=) | gnomAD v4 |
| 11 | g.2776007G= | CA1948314045 | KCNQ1 | c.1281G= (p.Ser427=) c.1098G= (p.Ser366=) c.1638G= (p.Ser546=) c.1257G= (p.Ser419=) c.744G= (p.Ser248=) | |
| 11 | g.2776007G>T | CA472464561 | KCNQ1 | c.1281G>T (p.Ser427=) c.1098G>T (p.Ser366=) c.1638G>T (p.Ser546=) c.1257G>T (p.Ser419=) c.744G>T (p.Ser248=) | ClinVar gnomAD v4 |
| 11 | g.2776008C>A | CA379139159 | KCNQ1 | c.1282C>A (p.Gln428Lys) c.1099C>A (p.Gln367Lys) c.1639C>A (p.Gln547Lys) c.1258C>A (p.Gln420Lys) c.745C>A (p.Gln249Lys) | gnomAD v4 |
| 11 | g.2776008C= | CA1948314046 | KCNQ1 | c.1282C= (p.Gln428=) c.1099C= (p.Gln367=) c.1639C= (p.Gln547=) c.1258C= (p.Gln420=) c.745C= (p.Gln249=) | |
| 11 | g.2776008C>G | CA379139157 | KCNQ1 | c.1282C>G (p.Gln428Glu) c.1099C>G (p.Gln367Glu) c.1639C>G (p.Gln547Glu) c.1258C>G (p.Gln420Glu) c.745C>G (p.Gln249Glu) | |
| 11 | g.2776008C>T | CA379139158 | KCNQ1 | c.1282C>T (p.Gln428Ter) c.1099C>T (p.Gln367Ter) c.1639C>T (p.Gln547Ter) c.1258C>T (p.Gln420Ter) c.745C>T (p.Gln249Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2776009A= | CA1948314047 | KCNQ1 | c.1283A= (p.Gln428=) c.1100A= (p.Gln367=) c.1640A= (p.Gln547=) c.1259A= (p.Gln420=) c.746A= (p.Gln249=) | |
| 11 | g.2776009A>C | CA379139160 | KCNQ1 | c.1283A>C (p.Gln428Pro) c.1100A>C (p.Gln367Pro) c.1640A>C (p.Gln547Pro) c.1259A>C (p.Gln420Pro) c.746A>C (p.Gln249Pro) | |
| 11 | g.2776009A>G | CA006094 | KCNQ1 | c.1283A>G (p.Gln428Arg) c.1100A>G (p.Gln367Arg) c.1640A>G (p.Gln547Arg) c.1259A>G (p.Gln420Arg) c.746A>G (p.Gln249Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2776009A>T | CA379139161 | KCNQ1 | c.1283A>T (p.Gln428Leu) c.1100A>T (p.Gln367Leu) c.1640A>T (p.Gln547Leu) c.1259A>T (p.Gln420Leu) c.746A>T (p.Gln249Leu) | gnomAD v4 |
| 11 | g.2776009_2776010delinsAG | CA1948314048 | KCNQ1 | c.1283_1284delinsAG (p.Gln428=) c.1100_1101delinsAG (p.Gln367=) c.1640_1641delinsAG (p.Gln547=) c.1259_1260delinsAG (p.Gln420=) c.746_747delinsAG (p.Gln249=) | |
| 11 | g.2776010G>A | CA472464570 | KCNQ1 | c.1284G>A (p.Gln428=) c.1101G>A (p.Gln367=) c.1641G>A (p.Gln547=) c.1260G>A (p.Gln420=) c.747G>A (p.Gln249=) | gnomAD v4 |
| 11 | g.2776010G>C | CA379139162 | KCNQ1 | c.1284G>C (p.Gln428His) c.1101G>C (p.Gln367His) c.1641G>C (p.Gln547His) c.1260G>C (p.Gln420His) c.747G>C (p.Gln249His) | |
| 11 | g.2776010G>T | CA379139163 | KCNQ1 | c.1284G>T (p.Gln428His) c.1101G>T (p.Gln367His) c.1641G>T (p.Gln547His) c.1260G>T (p.Gln420His) c.747G>T (p.Gln249His) | gnomAD v4 |
| 11 | g.2776012del | CA1948314049 | KCNQ1 | c.1286del (p.Gly429AlafsTer?) c.1103del (p.Gly368AlafsTer?) c.1643del (p.Gly548AlafsTer?) c.1262del (p.Gly421AlafsTer?) c.749del (p.Gly250AlafsTer?) | dbSNP gnomAD v4 |
| 11 | g.2776011G>A | CA031545 | KCNQ1 | c.1285G>A (p.Gly429Ser) c.1102G>A (p.Gly368Ser) c.1642G>A (p.Gly548Ser) c.1261G>A (p.Gly421Ser) c.748G>A (p.Gly250Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2776011G>C | CA379139165 | KCNQ1 | c.1285G>C (p.Gly429Arg) c.1102G>C (p.Gly368Arg) c.1642G>C (p.Gly548Arg) c.1261G>C (p.Gly421Arg) c.748G>C (p.Gly250Arg) | gnomAD v4 |