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.2583466A= | CA1948224809 | KCNQ1 | c.692A= (p.Lys231=) c.509A= (p.Lys170=) c.953A= (p.Lys318=) c.572A= (p.Lys191=) c.155A= (p.Lys52=) | |
| 11 | g.2583466A>C | CA008890 | KCNQ1 | c.692A>C (p.Lys231Thr) c.509A>C (p.Lys170Thr) c.953A>C (p.Lys318Thr) c.572A>C (p.Lys191Thr) c.155A>C (p.Lys52Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583466A>G | CA379132992 | KCNQ1 | c.692A>G (p.Lys231Arg) c.509A>G (p.Lys170Arg) c.953A>G (p.Lys318Arg) c.572A>G (p.Lys191Arg) c.155A>G (p.Lys52Arg) | |
| 11 | g.2583466A>T | CA379132993 | KCNQ1 | c.692A>T (p.Lys231Met) c.509A>T (p.Lys170Met) c.953A>T (p.Lys318Met) c.572A>T (p.Lys191Met) c.155A>T (p.Lys52Met) | |
| 11 | g.2583467G>A | CA472038413 | KCNQ1 | c.693G>A (p.Lys231=) c.510G>A (p.Lys170=) c.954G>A (p.Lys318=) c.573G>A (p.Lys191=) c.156G>A (p.Lys52=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2583467G>C | CA008895 | KCNQ1 | c.693G>C (p.Lys231Asn) c.510G>C (p.Lys170Asn) c.954G>C (p.Lys318Asn) c.573G>C (p.Lys191Asn) c.156G>C (p.Lys52Asn) | ClinVar dbSNP |
| 11 | g.2583467G= | CA1948224817 | KCNQ1 | c.693G= (p.Lys231=) c.510G= (p.Lys170=) c.954G= (p.Lys318=) c.573G= (p.Lys191=) c.156G= (p.Lys52=) | |
| 11 | g.2583467G>T | CA379132994 | KCNQ1 | c.693G>T (p.Lys231Asn) c.510G>T (p.Lys170Asn) c.954G>T (p.Lys318Asn) c.573G>T (p.Lys191Asn) c.156G>T (p.Lys52Asn) | |
| 11 | g.2583468G>A | CA379132995 | KCNQ1 | c.694G>A (p.Val232Met) c.511G>A (p.Val171Met) c.955G>A (p.Val319Met) c.574G>A (p.Val192Met) c.157G>A (p.Val53Met) | ClinVar dbSNP |
| 11 | g.2583468G>C | CA379132997 | KCNQ1 | c.694G>C (p.Val232Leu) c.511G>C (p.Val171Leu) c.955G>C (p.Val319Leu) c.574G>C (p.Val192Leu) c.157G>C (p.Val53Leu) | |
| 11 | g.2583468G= | CA1948224824 | KCNQ1 | c.694G= (p.Val232=) c.511G= (p.Val171=) c.955G= (p.Val319=) c.574G= (p.Val192=) c.157G= (p.Val53=) | |
| 11 | g.2583468G>T | CA379132996 | KCNQ1 | c.694G>T (p.Val232Leu) c.511G>T (p.Val171Leu) c.955G>T (p.Val319Leu) c.574G>T (p.Val192Leu) c.157G>T (p.Val53Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2583469T>A | CA379132998 | KCNQ1 | c.695T>A (p.Val232Glu) c.512T>A (p.Val171Glu) c.956T>A (p.Val319Glu) c.575T>A (p.Val192Glu) c.158T>A (p.Val53Glu) | |
| 11 | g.2583469T>C | CA379132999 | KCNQ1 | c.695T>C (p.Val232Ala) c.512T>C (p.Val171Ala) c.956T>C (p.Val319Ala) c.575T>C (p.Val192Ala) c.158T>C (p.Val53Ala) | |
| 11 | g.2583469T>G | CA379133000 | KCNQ1 | c.695T>G (p.Val232Gly) c.512T>G (p.Val171Gly) c.956T>G (p.Val319Gly) c.575T>G (p.Val192Gly) c.158T>G (p.Val53Gly) | dbSNP COSMIC COSMIC |
| 11 | g.2583469T= | CA1948224833 | KCNQ1 | c.695T= (p.Val232=) c.512T= (p.Val171=) c.956T= (p.Val319=) c.575T= (p.Val192=) c.158T= (p.Val53=) | |
| 11 | g.2583470G>A | CA216327228 | KCNQ1 | c.696G>A (p.Val232=) c.513G>A (p.Val171=) c.957G>A (p.Val319=) c.576G>A (p.Val192=) c.159G>A (p.Val53=) | dbSNP |
| 11 | g.2583470G>C | CA472038414 | KCNQ1 | c.696G>C (p.Val232=) c.513G>C (p.Val171=) c.957G>C (p.Val319=) c.576G>C (p.Val192=) c.159G>C (p.Val53=) | |
| 11 | g.2583470G= | CA1948224839 | KCNQ1 | c.696G= (p.Val232=) c.513G= (p.Val171=) c.957G= (p.Val319=) c.576G= (p.Val192=) c.159G= (p.Val53=) | |
| 11 | g.2583470G>T | CA16606302 | KCNQ1 | c.696G>T (p.Val232=) c.513G>T (p.Val171=) c.957G>T (p.Val319=) c.576G>T (p.Val192=) c.159G>T (p.Val53=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583470_2583471delinsTT | CA2580082604 | KCNQ1 | c.696_697delinsTT (p.Pro233Ser) c.513_514delinsTT (p.Pro172Ser) c.957_958delinsTT (p.Pro320Ser) c.576_577delinsTT (p.Pro193Ser) c.159_160delinsTT (p.Pro54Ser) | ClinVar |
| 11 | g.2583471C>A | CA379133001 | KCNQ1 | c.697C>A (p.Pro233Thr) c.514C>A (p.Pro172Thr) c.958C>A (p.Pro320Thr) c.577C>A (p.Pro193Thr) c.160C>A (p.Pro54Thr) | |
| 11 | g.2583471C= | CA1948224843 | KCNQ1 | c.697C= (p.Pro233=) c.514C= (p.Pro172=) c.958C= (p.Pro320=) c.577C= (p.Pro193=) c.160C= (p.Pro54=) | |
| 11 | g.2583471C>G | CA008901 | KCNQ1 | c.697C>G (p.Pro233Ala) c.514C>G (p.Pro172Ala) c.958C>G (p.Pro320Ala) c.577C>G (p.Pro193Ala) c.160C>G (p.Pro54Ala) | ClinVar dbSNP |
| 11 | g.2583471C>T | CA008910 | KCNQ1 | c.697C>T (p.Pro233Ser) c.514C>T (p.Pro172Ser) c.958C>T (p.Pro320Ser) c.577C>T (p.Pro193Ser) c.160C>T (p.Pro54Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583472C>A | CA008917 | KCNQ1 | c.698C>A (p.Pro233His) c.515C>A (p.Pro172His) c.959C>A (p.Pro320His) c.578C>A (p.Pro193His) c.161C>A (p.Pro54His) | ClinVar dbSNP |
| 11 | g.2583472C= | CA1948224851 | KCNQ1 | c.698C= (p.Pro233=) c.515C= (p.Pro172=) c.959C= (p.Pro320=) c.578C= (p.Pro193=) c.161C= (p.Pro54=) | |
| 11 | g.2583472C>G | CA379133002 | KCNQ1 | c.698C>G (p.Pro233Arg) c.515C>G (p.Pro172Arg) c.959C>G (p.Pro320Arg) c.578C>G (p.Pro193Arg) c.161C>G (p.Pro54Arg) | ClinVar |
| 11 | g.2583472C>T | CA379133003 | KCNQ1 | c.698C>T (p.Pro233Leu) c.515C>T (p.Pro172Leu) c.959C>T (p.Pro320Leu) c.578C>T (p.Pro193Leu) c.161C>T (p.Pro54Leu) | ClinVar dbSNP |
| 11 | g.2583472_2583473delinsTT | CA645569440 | KCNQ1 | c.698_699delinsTT (p.Pro233Leu) c.515_516delinsTT (p.Pro172Leu) c.959_960delinsTT (p.Pro320Leu) c.578_579delinsTT (p.Pro193Leu) c.161_162delinsTT (p.Pro54Leu) | COSMIC |
| 11 | g.2583473C>A | CA472038415 | KCNQ1 | c.699C>A (p.Pro233=) c.516C>A (p.Pro172=) c.960C>A (p.Pro320=) c.579C>A (p.Pro193=) c.162C>A (p.Pro54=) | |
| 11 | g.2583473C= | CA1948224859 | KCNQ1 | c.699C= (p.Pro233=) c.516C= (p.Pro172=) c.960C= (p.Pro320=) c.579C= (p.Pro193=) c.162C= (p.Pro54=) | |
| 11 | g.2583473C>G | CA472038416 | KCNQ1 | c.699C>G (p.Pro233=) c.516C>G (p.Pro172=) c.960C>G (p.Pro320=) c.579C>G (p.Pro193=) c.162C>G (p.Pro54=) | dbSNP gnomAD v2 |
| 11 | g.2583473C>T | CA041816 | KCNQ1 | c.699C>T (p.Pro233=) c.516C>T (p.Pro172=) c.960C>T (p.Pro320=) c.579C>T (p.Pro193=) c.162C>T (p.Pro54=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2583474C>A | CA379133005 | KCNQ1 | c.700C>A (p.Gln234Lys) c.517C>A (p.Gln173Lys) c.961C>A (p.Gln321Lys) c.580C>A (p.Gln194Lys) c.163C>A (p.Gln55Lys) | |
| 11 | g.2583474C= | CA1948224864 | KCNQ1 | c.700C= (p.Gln234=) c.517C= (p.Gln173=) c.961C= (p.Gln321=) c.580C= (p.Gln194=) c.163C= (p.Gln55=) | |
| 11 | g.2583474C>G | CA379133004 | KCNQ1 | c.700C>G (p.Gln234Glu) c.517C>G (p.Gln173Glu) c.961C>G (p.Gln321Glu) c.580C>G (p.Gln194Glu) c.163C>G (p.Gln55Glu) | |
| 11 | g.2583474C>T | CA008923 | KCNQ1 | c.700C>T (p.Gln234Ter) c.517C>T (p.Gln173Ter) c.961C>T (p.Gln321Ter) c.580C>T (p.Gln194Ter) c.163C>T (p.Gln55Ter) | ClinVar dbSNP |
| 11 | g.2583475A= | CA1948224869 | KCNQ1 | c.701A= (p.Gln234=) c.518A= (p.Gln173=) c.962A= (p.Gln321=) c.581A= (p.Gln194=) c.164A= (p.Gln55=) | |
| 11 | g.2583475A>C | CA008930 | KCNQ1 | c.701A>C (p.Gln234Pro) c.518A>C (p.Gln173Pro) c.962A>C (p.Gln321Pro) c.581A>C (p.Gln194Pro) c.164A>C (p.Gln55Pro) | ClinVar dbSNP |
| 11 | g.2583475A>G | CA379133007 | KCNQ1 | c.701A>G (p.Gln234Arg) c.518A>G (p.Gln173Arg) c.962A>G (p.Gln321Arg) c.581A>G (p.Gln194Arg) c.164A>G (p.Gln55Arg) | |
| 11 | g.2583475A>T | CA379133006 | KCNQ1 | c.701A>T (p.Gln234Leu) c.518A>T (p.Gln173Leu) c.962A>T (p.Gln321Leu) c.581A>T (p.Gln194Leu) c.164A>T (p.Gln55Leu) | dbSNP |
| 11 | g.2583476G>A | CA472038417 | KCNQ1 | c.702G>A (p.Gln234=) c.519G>A (p.Gln173=) c.963G>A (p.Gln321=) c.582G>A (p.Gln194=) c.165G>A (p.Gln55=) | |
| 11 | g.2583476G>C | CA379133008 | KCNQ1 | c.702G>C (p.Gln234His) c.519G>C (p.Gln173His) c.963G>C (p.Gln321His) c.582G>C (p.Gln194His) c.165G>C (p.Gln55His) | |
| 11 | g.2583476G>T | CA379133009 | KCNQ1 | c.702G>T (p.Gln234His) c.519G>T (p.Gln173His) c.963G>T (p.Gln321His) c.582G>T (p.Gln194His) c.165G>T (p.Gln55His) | |
| 11 | g.2583477A= | CA1948224876 | KCNQ1 | c.703A= (p.Thr235=) c.520A= (p.Thr174=) c.964A= (p.Thr322=) c.583A= (p.Thr195=) c.166A= (p.Thr56=) | |
| 11 | g.2583477A>C | CA379133010 | KCNQ1 | c.703A>C (p.Thr235Pro) c.520A>C (p.Thr174Pro) c.964A>C (p.Thr322Pro) c.583A>C (p.Thr195Pro) c.166A>C (p.Thr56Pro) | ClinVar dbSNP |
| 11 | g.2583477A>G | CA008936 | KCNQ1 | c.703A>G (p.Thr235Ala) c.520A>G (p.Thr174Ala) c.964A>G (p.Thr322Ala) c.583A>G (p.Thr195Ala) c.166A>G (p.Thr56Ala) | ClinVar dbSNP |
| 11 | g.2583477A>T | CA379133011 | KCNQ1 | c.703A>T (p.Thr235Ser) c.520A>T (p.Thr174Ser) c.964A>T (p.Thr322Ser) c.583A>T (p.Thr195Ser) c.166A>T (p.Thr56Ser) | |
| 11 | g.2583478C>A | CA008945 | KCNQ1 | c.704C>A (p.Thr235Lys) c.521C>A (p.Thr174Lys) c.965C>A (p.Thr322Lys) c.584C>A (p.Thr195Lys) c.167C>A (p.Thr56Lys) | ClinVar dbSNP gnomAD v4 |