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 |
|---|---|---|---|---|---|
| 8 | g.132174304A>C | CA372290178 | KCNQ3 | c.979T>G (p.Trp327Gly) c.619T>G (p.Trp207Gly) c.652T>G (p.Trp218Gly) c.629T>G n.757T>G c.616T>G (p.Trp206Gly) c.-178T>G (n.-178T>G) c.271T>G (p.Trp91Gly) c.757T>G (p.Trp253Gly) | |
| 8 | g.132174304A>G | CA372290179 | KCNQ3 | c.979T>C (p.Trp327Arg) c.619T>C (p.Trp207Arg) c.652T>C (p.Trp218Arg) c.629T>C n.757T>C c.616T>C (p.Trp206Arg) c.-178T>C (n.-178T>C) c.271T>C (p.Trp91Arg) c.757T>C (p.Trp253Arg) | |
| 8 | g.132174304A>T | CA372290180 | KCNQ3 | c.979T>A (p.Trp327Arg) c.619T>A (p.Trp207Arg) c.652T>A (p.Trp218Arg) c.629T>A n.757T>A c.616T>A (p.Trp206Arg) c.-178T>A (n.-178T>A) c.271T>A (p.Trp91Arg) c.757T>A (p.Trp253Arg) | |
| 8 | g.132174305C>A | CA463070300 | KCNQ3 | c.978G>T (p.Thr326=) c.618G>T (p.Thr206=) c.651G>T (p.Thr217=) c.628G>T n.756G>T c.615G>T (p.Thr205=) c.-179G>T (n.-179G>T) c.270G>T (p.Thr90=) c.756G>T (p.Thr252=) | gnomAD v4 COSMIC |
| 8 | g.132174305C= | CA1820664032 | KCNQ3 | c.978G= (p.Thr326=) c.618G= (p.Thr206=) c.651G= (p.Thr217=) c.628G= n.756G= c.615G= (p.Thr205=) c.-179G= (n.-179G=) c.270G= (p.Thr90=) c.756G= (p.Thr252=) | |
| 8 | g.132174305C>G | CA463070301 | KCNQ3 | c.978G>C (p.Thr326=) c.618G>C (p.Thr206=) c.651G>C (p.Thr217=) c.628G>C n.756G>C c.615G>C (p.Thr205=) c.-179G>C (n.-179G>C) c.270G>C (p.Thr90=) c.756G>C (p.Thr252=) | |
| 8 | g.132174305C>T | CA4880804 | KCNQ3 | c.978G>A (p.Thr326=) c.618G>A (p.Thr206=) c.651G>A (p.Thr217=) c.628G>A n.756G>A c.615G>A (p.Thr205=) c.-179G>A (n.-179G>A) c.270G>A (p.Thr90=) c.756G>A (p.Thr252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.132174306G>A | CA372290183 | KCNQ3 | c.977C>T (p.Thr326Met) c.617C>T (p.Thr206Met) c.650C>T (p.Thr217Met) c.627C>T n.755C>T c.614C>T (p.Thr205Met) c.-180C>T (n.-180C>T) c.269C>T (p.Thr90Met) c.755C>T (p.Thr252Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132174306G>C | CA372290182 | KCNQ3 | c.977C>G (p.Thr326Arg) c.617C>G (p.Thr206Arg) c.650C>G (p.Thr217Arg) c.627C>G n.755C>G c.614C>G (p.Thr205Arg) c.-180C>G (n.-180C>G) c.269C>G (p.Thr90Arg) c.755C>G (p.Thr252Arg) | |
| 8 | g.132174306G= | CA1820664033 | KCNQ3 | c.977C= (p.Thr326=) c.617C= (p.Thr206=) c.650C= (p.Thr217=) c.627C= n.755C= c.614C= (p.Thr205=) c.-180C= (n.-180C=) c.269C= (p.Thr90=) c.755C= (p.Thr252=) | |
| 8 | g.132174306G>T | CA372290181 | KCNQ3 | c.977C>A (p.Thr326Lys) c.617C>A (p.Thr206Lys) c.650C>A (p.Thr217Lys) c.627C>A n.755C>A c.614C>A (p.Thr205Lys) c.-180C>A (n.-180C>A) c.269C>A (p.Thr90Lys) c.755C>A (p.Thr252Lys) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132174307T>A | CA372290184 | KCNQ3 | c.976A>T (p.Thr326Ser) c.616A>T (p.Thr206Ser) c.649A>T (p.Thr217Ser) c.626A>T n.754A>T c.613A>T (p.Thr205Ser) c.-181A>T (n.-181A>T) c.268A>T (p.Thr90Ser) c.754A>T (p.Thr252Ser) | |
| 8 | g.132174307T>C | CA372290186 | KCNQ3 | c.976A>G (p.Thr326Ala) c.616A>G (p.Thr206Ala) c.649A>G (p.Thr217Ala) c.626A>G n.754A>G c.613A>G (p.Thr205Ala) c.-181A>G (n.-181A>G) c.268A>G (p.Thr90Ala) c.754A>G (p.Thr252Ala) | gnomAD v4 |
| 8 | g.132174307T>G | CA372290185 | KCNQ3 | c.976A>C (p.Thr326Pro) c.616A>C (p.Thr206Pro) c.649A>C (p.Thr217Pro) c.626A>C n.754A>C c.613A>C (p.Thr205Pro) c.-181A>C (n.-181A>C) c.268A>C (p.Thr90Pro) c.754A>C (p.Thr252Pro) | |
| 8 | g.132174308T>A | CA372290187 | KCNQ3 | c.975A>T (p.Lys325Asn) c.615A>T (p.Lys205Asn) c.648A>T (p.Lys216Asn) c.625A>T n.753A>T c.612A>T (p.Lys204Asn) c.-182A>T (n.-182A>T) c.267A>T (p.Lys89Asn) c.753A>T (p.Lys251Asn) | |
| 8 | g.132174308T>C | CA463070302 | KCNQ3 | c.975A>G (p.Lys325=) c.615A>G (p.Lys205=) c.648A>G (p.Lys216=) c.625A>G n.753A>G c.612A>G (p.Lys204=) c.-182A>G (n.-182A>G) c.267A>G (p.Lys89=) c.753A>G (p.Lys251=) | |
| 8 | g.132174308T>G | CA372290188 | KCNQ3 | c.975A>C (p.Lys325Asn) c.615A>C (p.Lys205Asn) c.648A>C (p.Lys216Asn) c.625A>C n.753A>C c.612A>C (p.Lys204Asn) c.-182A>C (n.-182A>C) c.267A>C (p.Lys89Asn) c.753A>C (p.Lys251Asn) | |
| 8 | g.132174309T>A | CA372290189 | KCNQ3 | c.974A>T (p.Lys325Ile) c.614A>T (p.Lys205Ile) c.647A>T (p.Lys216Ile) c.624A>T n.752A>T c.611A>T (p.Lys204Ile) c.-183A>T (n.-183A>T) c.266A>T (p.Lys89Ile) c.752A>T (p.Lys251Ile) | |
| 8 | g.132174309T>C | CA372290190 | KCNQ3 | c.974A>G (p.Lys325Arg) c.614A>G (p.Lys205Arg) c.647A>G (p.Lys216Arg) c.624A>G n.752A>G c.611A>G (p.Lys204Arg) c.-183A>G (n.-183A>G) c.266A>G (p.Lys89Arg) c.752A>G (p.Lys251Arg) | |
| 8 | g.132174309T>G | CA372290191 | KCNQ3 | c.974A>C (p.Lys325Thr) c.614A>C (p.Lys205Thr) c.647A>C (p.Lys216Thr) c.624A>C n.752A>C c.611A>C (p.Lys204Thr) c.-183A>C (n.-183A>C) c.266A>C (p.Lys89Thr) c.752A>C (p.Lys251Thr) | |
| 8 | g.132174310T>A | CA372290192 | KCNQ3 | c.973A>T (p.Lys325Ter) c.613A>T (p.Lys205Ter) c.646A>T (p.Lys216Ter) c.623A>T n.751A>T c.610A>T (p.Lys204Ter) c.-184A>T (n.-184A>T) c.265A>T (p.Lys89Ter) c.751A>T (p.Lys251Ter) | |
| 8 | g.132174310T>C | CA372290193 | KCNQ3 | c.973A>G (p.Lys325Glu) c.613A>G (p.Lys205Glu) c.646A>G (p.Lys216Glu) c.623A>G n.751A>G c.610A>G (p.Lys204Glu) c.-184A>G (n.-184A>G) c.265A>G (p.Lys89Glu) c.751A>G (p.Lys251Glu) | |
| 8 | g.132174310T>G | CA372290194 | KCNQ3 | c.973A>C (p.Lys325Gln) c.613A>C (p.Lys205Gln) c.646A>C (p.Lys216Gln) c.623A>C n.751A>C c.610A>C (p.Lys204Gln) c.-184A>C (n.-184A>C) c.265A>C (p.Lys89Gln) c.751A>C (p.Lys251Gln) | |
| 8 | g.132174311G>A | CA463070303 | KCNQ3 | c.972C>T (p.Pro324=) c.612C>T (p.Pro204=) c.645C>T (p.Pro215=) c.622C>T n.750C>T c.609C>T (p.Pro203=) c.-185C>T (n.-185C>T) c.264C>T (p.Pro88=) c.750C>T (p.Pro250=) | gnomAD v4 |
| 8 | g.132174311G>C | CA463070304 | KCNQ3 | c.972C>G (p.Pro324=) c.612C>G (p.Pro204=) c.645C>G (p.Pro215=) c.622C>G n.750C>G c.609C>G (p.Pro203=) c.-185C>G (n.-185C>G) c.264C>G (p.Pro88=) c.750C>G (p.Pro250=) | |
| 8 | g.132174311G>T | CA463070305 | KCNQ3 | c.972C>A (p.Pro324=) c.612C>A (p.Pro204=) c.645C>A (p.Pro215=) c.622C>A n.750C>A c.609C>A (p.Pro203=) c.-185C>A (n.-185C>A) c.264C>A (p.Pro88=) c.750C>A (p.Pro250=) | gnomAD v4 |
| 8 | g.132174312G>A | CA372290195 | KCNQ3 | c.971C>T (p.Pro324Leu) c.611C>T (p.Pro204Leu) c.644C>T (p.Pro215Leu) c.621C>T n.749C>T c.608C>T (p.Pro203Leu) c.-186C>T (n.-186C>T) c.263C>T (p.Pro88Leu) c.749C>T (p.Pro250Leu) | ClinVar gnomAD v4 |
| 8 | g.132174312G>C | CA372290196 | KCNQ3 | c.971C>G (p.Pro324Arg) c.611C>G (p.Pro204Arg) c.644C>G (p.Pro215Arg) c.621C>G n.749C>G c.608C>G (p.Pro203Arg) c.-186C>G (n.-186C>G) c.263C>G (p.Pro88Arg) c.749C>G (p.Pro250Arg) | |
| 8 | g.132174312G>T | CA372290197 | KCNQ3 | c.971C>A (p.Pro324His) c.611C>A (p.Pro204His) c.644C>A (p.Pro215His) c.621C>A n.749C>A c.608C>A (p.Pro203His) c.-186C>A (n.-186C>A) c.263C>A (p.Pro88His) c.749C>A (p.Pro250His) | gnomAD v4 |
| 8 | g.132174313G>A | CA372290200 | KCNQ3 | c.970C>T (p.Pro324Ser) c.610C>T (p.Pro204Ser) c.643C>T (p.Pro215Ser) c.620C>T n.748C>T c.607C>T (p.Pro203Ser) c.-187C>T (n.-187C>T) c.262C>T (p.Pro88Ser) c.748C>T (p.Pro250Ser) | gnomAD v4 |
| 8 | g.132174313G>C | CA372290198 | KCNQ3 | c.970C>G (p.Pro324Ala) c.610C>G (p.Pro204Ala) c.643C>G (p.Pro215Ala) c.620C>G n.748C>G c.607C>G (p.Pro203Ala) c.-187C>G (n.-187C>G) c.262C>G (p.Pro88Ala) c.748C>G (p.Pro250Ala) | ClinVar dbSNP |
| 8 | g.132174313G= | CA1820664034 | KCNQ3 | c.970C= (p.Pro324=) c.610C= (p.Pro204=) c.643C= (p.Pro215=) c.620C= n.748C= c.607C= (p.Pro203=) c.-187C= (n.-187C=) c.262C= (p.Pro88=) c.748C= (p.Pro250=) | |
| 8 | g.132174313G>T | CA372290199 | KCNQ3 | c.970C>A (p.Pro324Thr) c.610C>A (p.Pro204Thr) c.643C>A (p.Pro215Thr) c.620C>A n.748C>A c.607C>A (p.Pro203Thr) c.-187C>A (n.-187C>A) c.262C>A (p.Pro88Thr) c.748C>A (p.Pro250Thr) | |
| 8 | g.132174314T>A | CA463070308 | KCNQ3 | c.969A>T (p.Thr323=) c.609A>T (p.Thr203=) c.642A>T (p.Thr214=) c.619A>T n.747A>T c.606A>T (p.Thr202=) c.-188A>T (n.-188A>T) c.261A>T (p.Thr87=) c.747A>T (p.Thr249=) | |
| 8 | g.132174314T>C | CA463070306 | KCNQ3 | c.969A>G (p.Thr323=) c.609A>G (p.Thr203=) c.642A>G (p.Thr214=) c.619A>G n.747A>G c.606A>G (p.Thr202=) c.-188A>G (n.-188A>G) c.261A>G (p.Thr87=) c.747A>G (p.Thr249=) | gnomAD v4 |
| 8 | g.132174314T>G | CA463070307 | KCNQ3 | c.969A>C (p.Thr323=) c.609A>C (p.Thr203=) c.642A>C (p.Thr214=) c.619A>C n.747A>C c.606A>C (p.Thr202=) c.-188A>C (n.-188A>C) c.261A>C (p.Thr87=) c.747A>C (p.Thr249=) | |
| 8 | g.132174315G>A | CA372290201 | KCNQ3 | c.968C>T (p.Thr323Ile) c.608C>T (p.Thr203Ile) c.641C>T (p.Thr214Ile) c.618C>T n.746C>T c.605C>T (p.Thr202Ile) c.-189C>T (n.-189C>T) c.260C>T (p.Thr87Ile) c.746C>T (p.Thr249Ile) | gnomAD v4 |
| 8 | g.132174315G>C | CA372290202 | KCNQ3 | c.968C>G (p.Thr323Arg) c.608C>G (p.Thr203Arg) c.641C>G (p.Thr214Arg) c.618C>G n.746C>G c.605C>G (p.Thr202Arg) c.-189C>G (n.-189C>G) c.260C>G (p.Thr87Arg) c.746C>G (p.Thr249Arg) | gnomAD v4 |
| 8 | g.132174315G>T | CA372290203 | KCNQ3 | c.968C>A (p.Thr323Lys) c.608C>A (p.Thr203Lys) c.641C>A (p.Thr214Lys) c.618C>A n.746C>A c.605C>A (p.Thr202Lys) c.-189C>A (n.-189C>A) c.260C>A (p.Thr87Lys) c.746C>A (p.Thr249Lys) | gnomAD v4 |
| 8 | g.132174316T>A | CA372290204 | KCNQ3 | c.967A>T (p.Thr323Ser) c.607A>T (p.Thr203Ser) c.640A>T (p.Thr214Ser) c.617A>T n.745A>T c.604A>T (p.Thr202Ser) c.-190A>T (n.-190A>T) c.259A>T (p.Thr87Ser) c.745A>T (p.Thr249Ser) | |
| 8 | g.132174316T>C | CA372290205 | KCNQ3 | c.967A>G (p.Thr323Ala) c.607A>G (p.Thr203Ala) c.640A>G (p.Thr214Ala) c.617A>G n.745A>G c.604A>G (p.Thr202Ala) c.-190A>G (n.-190A>G) c.259A>G (p.Thr87Ala) c.745A>G (p.Thr249Ala) | |
| 8 | g.132174316T>G | CA372290206 | KCNQ3 | c.967A>C (p.Thr323Pro) c.607A>C (p.Thr203Pro) c.640A>C (p.Thr214Pro) c.617A>C n.745A>C c.604A>C (p.Thr202Pro) c.-190A>C (n.-190A>C) c.259A>C (p.Thr87Pro) c.745A>C (p.Thr249Pro) | |
| 8 | g.132174317C>A | CA372290207 | KCNQ3 | c.966G>T (p.Lys322Asn) c.606G>T (p.Lys202Asn) c.639G>T (p.Lys213Asn) c.616G>T n.744G>T c.603G>T (p.Lys201Asn) c.-191G>T (n.-191G>T) c.258G>T (p.Lys86Asn) c.744G>T (p.Lys248Asn) | gnomAD v4 |
| 8 | g.132174317C>G | CA372290208 | KCNQ3 | c.966G>C (p.Lys322Asn) c.606G>C (p.Lys202Asn) c.639G>C (p.Lys213Asn) c.616G>C n.744G>C c.603G>C (p.Lys201Asn) c.-191G>C (n.-191G>C) c.258G>C (p.Lys86Asn) c.744G>C (p.Lys248Asn) | |
| 8 | g.132174317C>T | CA463070309 | KCNQ3 | c.966G>A (p.Lys322=) c.606G>A (p.Lys202=) c.639G>A (p.Lys213=) c.616G>A n.744G>A c.603G>A (p.Lys201=) c.-191G>A (n.-191G>A) c.258G>A (p.Lys86=) c.744G>A (p.Lys248=) | gnomAD v4 |
| 8 | g.132174318T>A | CA372290209 | KCNQ3 | c.965A>T (p.Lys322Met) c.605A>T (p.Lys202Met) c.638A>T (p.Lys213Met) c.615A>T n.743A>T c.602A>T (p.Lys201Met) c.-192A>T (n.-192A>T) c.257A>T (p.Lys86Met) c.743A>T (p.Lys248Met) | |
| 8 | g.132174318T>C | CA372290210 | KCNQ3 | c.965A>G (p.Lys322Arg) c.605A>G (p.Lys202Arg) c.638A>G (p.Lys213Arg) c.615A>G n.743A>G c.602A>G (p.Lys201Arg) c.-192A>G (n.-192A>G) c.257A>G (p.Lys86Arg) c.743A>G (p.Lys248Arg) | |
| 8 | g.132174318T>G | CA372290211 | KCNQ3 | c.965A>C (p.Lys322Thr) c.605A>C (p.Lys202Thr) c.638A>C (p.Lys213Thr) c.615A>C n.743A>C c.602A>C (p.Lys201Thr) c.-192A>C (n.-192A>C) c.257A>C (p.Lys86Thr) c.743A>C (p.Lys248Thr) | |
| 8 | g.132174319T>A | CA372290213 | KCNQ3 | c.964A>T (p.Lys322Ter) c.604A>T (p.Lys202Ter) c.637A>T (p.Lys213Ter) c.614A>T n.742A>T c.601A>T (p.Lys201Ter) c.-193A>T (n.-193A>T) c.256A>T (p.Lys86Ter) c.742A>T (p.Lys248Ter) | |
| 8 | g.132174319T>C | CA372290214 | KCNQ3 | c.964A>G (p.Lys322Glu) c.604A>G (p.Lys202Glu) c.637A>G (p.Lys213Glu) c.614A>G n.742A>G c.601A>G (p.Lys201Glu) c.-193A>G (n.-193A>G) c.256A>G (p.Lys86Glu) c.742A>G (p.Lys248Glu) |