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.2768849G>A | CA030713 | KCNQ1 | c.1163G>A (p.Arg388Gln) c.980G>A (p.Arg327Gln) c.1520G>A (p.Arg507Gln) c.1139G>A (p.Arg380Gln) c.626G>A (p.Arg209Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2768849G>C | CA379138900 | KCNQ1 | c.1163G>C (p.Arg388Pro) c.980G>C (p.Arg327Pro) c.1520G>C (p.Arg507Pro) c.1139G>C (p.Arg380Pro) c.626G>C (p.Arg209Pro) | |
| 11 | g.2768849G= | CA1948309890 | KCNQ1 | c.1163G= (p.Arg388=) c.980G= (p.Arg327=) c.1520G= (p.Arg507=) c.1139G= (p.Arg380=) c.626G= (p.Arg209=) | |
| 11 | g.2768849G>T | CA379138901 | KCNQ1 | c.1163G>T (p.Arg388Leu) c.980G>T (p.Arg327Leu) c.1520G>T (p.Arg507Leu) c.1139G>T (p.Arg380Leu) c.626G>T (p.Arg209Leu) | |
| 11 | g.2768850G>A | CA472459424 | KCNQ1 | c.1164G>A (p.Arg388=) c.981G>A (p.Arg327=) c.1521G>A (p.Arg507=) c.1140G>A (p.Arg380=) c.627G>A (p.Arg209=) | ClinVar dbSNP |
| 11 | g.2768850G>C | CA472459425 | KCNQ1 | c.1164G>C (p.Arg388=) c.981G>C (p.Arg327=) c.1521G>C (p.Arg507=) c.1140G>C (p.Arg380=) c.627G>C (p.Arg209=) | |
| 11 | g.2768850G>T | CA472459426 | KCNQ1 | c.1164G>T (p.Arg388=) c.981G>T (p.Arg327=) c.1521G>T (p.Arg507=) c.1140G>T (p.Arg380=) c.627G>T (p.Arg209=) | |
| 11 | g.2768851G>A | CA379138903 | KCNQ1 | c.1165G>A (p.Glu389Lys) c.982G>A (p.Glu328Lys) c.1522G>A (p.Glu508Lys) c.1141G>A (p.Glu381Lys) c.628G>A (p.Glu210Lys) | gnomAD v4 |
| 11 | g.2768851G>C | CA379138902 | KCNQ1 | c.1165G>C (p.Glu389Gln) c.982G>C (p.Glu328Gln) c.1522G>C (p.Glu508Gln) c.1141G>C (p.Glu381Gln) c.628G>C (p.Glu210Gln) | |
| 11 | g.2768851G= | CA1948309896 | KCNQ1 | c.1165G= (p.Glu389=) c.982G= (p.Glu328=) c.1522G= (p.Glu508=) c.1141G= (p.Glu381=) c.628G= (p.Glu210=) | |
| 11 | g.2768851G>T | CA005847 | KCNQ1 | c.1165G>T (p.Glu389Ter) c.982G>T (p.Glu328Ter) c.1522G>T (p.Glu508Ter) c.1141G>T (p.Glu381Ter) c.628G>T (p.Glu210Ter) | ClinVar dbSNP |
| 11 | g.2768851_2768852delinsGA | CA1948309894 | KCNQ1 | c.1165_1166delinsGA (p.Glu389=) c.982_983delinsGA (p.Glu328=) c.1522_1523delinsGA (p.Glu508=) c.1141_1142delinsGA (p.Glu381=) c.628_629delinsGA (p.Glu210=) | |
| 11 | g.2768852A= | CA1948309942 | KCNQ1 | c.1166A= (p.Glu389=) c.983A= (p.Glu328=) c.1523A= (p.Glu508=) c.1142A= (p.Glu381=) c.629A= (p.Glu210=) | |
| 11 | g.2768852A>C | CA379138904 | KCNQ1 | c.1166A>C (p.Glu389Ala) c.983A>C (p.Glu328Ala) c.1523A>C (p.Glu508Ala) c.1142A>C (p.Glu381Ala) c.629A>C (p.Glu210Ala) | |
| 11 | g.2768852A>G | CA379138905 | KCNQ1 | c.1166A>G (p.Glu389Gly) c.983A>G (p.Glu328Gly) c.1523A>G (p.Glu508Gly) c.1142A>G (p.Glu381Gly) c.629A>G (p.Glu210Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2768852A>T | CA379138906 | KCNQ1 | c.1166A>T (p.Glu389Val) c.983A>T (p.Glu328Val) c.1523A>T (p.Glu508Val) c.1142A>T (p.Glu381Val) c.629A>T (p.Glu210Val) | |
| 11 | g.2768853del | CA891842695 | KCNQ1 | c.1167del (p.Glu389AspfsTer?) c.984del (p.Glu328AspfsTer?) c.1524del (p.Glu508AspfsTer?) c.1143del (p.Glu381AspfsTer?) c.630del (p.Glu210AspfsTer?) | ClinVar dbSNP |
| 11 | g.2768854_2768873del | CA2580082627 | KCNQ1 | c.1168_1187del (p.His390GlyfsTer28) c.985_1004del (p.His329GlyfsTer28) c.1525_1544del (p.His509GlyfsTer28) c.1144_1163del (p.His382GlyfsTer28) c.631_650del (p.His211GlyfsTer28) | ClinVar gnomAD v4 |
| 11 | g.2768853A>C | CA379138907 | KCNQ1 | c.1167A>C (p.Glu389Asp) c.984A>C (p.Glu328Asp) c.1524A>C (p.Glu508Asp) c.1143A>C (p.Glu381Asp) c.630A>C (p.Glu210Asp) | |
| 11 | g.2768853A>G | CA472459427 | KCNQ1 | c.1167A>G (p.Glu389=) c.984A>G (p.Glu328=) c.1524A>G (p.Glu508=) c.1143A>G (p.Glu381=) c.630A>G (p.Glu210=) | |
| 11 | g.2768853A>T | CA379138908 | KCNQ1 | c.1167A>T (p.Glu389Asp) c.984A>T (p.Glu328Asp) c.1524A>T (p.Glu508Asp) c.1143A>T (p.Glu381Asp) c.630A>T (p.Glu210Asp) | |
| 11 | g.2768854C>A | CA379138909 | KCNQ1 | c.1168C>A (p.His390Asn) c.985C>A (p.His329Asn) c.1525C>A (p.His509Asn) c.1144C>A (p.His382Asn) c.631C>A (p.His211Asn) | |
| 11 | g.2768854C>G | CA379138910 | KCNQ1 | c.1168C>G (p.His390Asp) c.985C>G (p.His329Asp) c.1525C>G (p.His509Asp) c.1144C>G (p.His382Asp) c.631C>G (p.His211Asp) | |
| 11 | g.2768854C>T | CA379138911 | KCNQ1 | c.1168C>T (p.His390Tyr) c.985C>T (p.His329Tyr) c.1525C>T (p.His509Tyr) c.1144C>T (p.His382Tyr) c.631C>T (p.His211Tyr) | gnomAD v4 |
| 11 | g.2768855A= | CA1948309946 | KCNQ1 | c.1169A= (p.His390=) c.986A= (p.His329=) c.1526A= (p.His509=) c.1145A= (p.His382=) c.632A= (p.His211=) | |
| 11 | g.2768855A>C | CA379138912 | KCNQ1 | c.1169A>C (p.His390Pro) c.986A>C (p.His329Pro) c.1526A>C (p.His509Pro) c.1145A>C (p.His382Pro) c.632A>C (p.His211Pro) | |
| 11 | g.2768855A>G | CA379138913 | KCNQ1 | c.1169A>G (p.His390Arg) c.986A>G (p.His329Arg) c.1526A>G (p.His509Arg) c.1145A>G (p.His382Arg) c.632A>G (p.His211Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2768855A>T | CA379138914 | KCNQ1 | c.1169A>T (p.His390Leu) c.986A>T (p.His329Leu) c.1526A>T (p.His509Leu) c.1145A>T (p.His382Leu) c.632A>T (p.His211Leu) | |
| 11 | g.2768855_2768856delinsAC | CA1948309949 | KCNQ1 | c.1169_1170delinsAC (p.His390=) c.986_987delinsAC (p.His329=) c.1526_1527delinsAC (p.His509=) c.1145_1146delinsAC (p.His382=) c.632_633delinsAC (p.His211=) | |
| 11 | g.2768856C>A | CA379138916 | KCNQ1 | c.1170C>A (p.His390Gln) c.987C>A (p.His329Gln) c.1527C>A (p.His509Gln) c.1146C>A (p.His382Gln) c.633C>A (p.His211Gln) | ClinVar |
| 11 | g.2768856C= | CA1948309954 | KCNQ1 | c.1170C= (p.His390=) c.987C= (p.His329=) c.1527C= (p.His509=) c.1146C= (p.His382=) c.633C= (p.His211=) | |
| 11 | g.2768856C>G | CA379138915 | KCNQ1 | c.1170C>G (p.His390Gln) c.987C>G (p.His329Gln) c.1527C>G (p.His509Gln) c.1146C>G (p.His382Gln) c.633C>G (p.His211Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2768856C>T | CA030744 | KCNQ1 | c.1170C>T (p.His390=) c.987C>T (p.His329=) c.1527C>T (p.His509=) c.1146C>T (p.His382=) c.633C>T (p.His211=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2768857del | CA597109700 | KCNQ1 | c.1171del (p.His391IlefsTer?) c.988del (p.His330IlefsTer?) c.1528del (p.His510IlefsTer?) c.1147del (p.His383IlefsTer?) c.634del (p.His212IlefsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2768857C>A | CA379138917 | KCNQ1 | c.1171C>A (p.His391Asn) c.988C>A (p.His330Asn) c.1528C>A (p.His510Asn) c.1147C>A (p.His383Asn) c.634C>A (p.His212Asn) | |
| 11 | g.2768857C= | CA1948309958 | KCNQ1 | c.1171C= (p.His391=) c.988C= (p.His330=) c.1528C= (p.His510=) c.1147C= (p.His383=) c.634C= (p.His212=) | |
| 11 | g.2768857C>G | CA379138919 | KCNQ1 | c.1171C>G (p.His391Asp) c.988C>G (p.His330Asp) c.1528C>G (p.His510Asp) c.1147C>G (p.His383Asp) c.634C>G (p.His212Asp) | |
| 11 | g.2768857C>T | CA379138918 | KCNQ1 | c.1171C>T (p.His391Tyr) c.988C>T (p.His330Tyr) c.1528C>T (p.His510Tyr) c.1147C>T (p.His383Tyr) c.634C>T (p.His212Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2768858A= | CA1948309960 | KCNQ1 | c.1172A= (p.His391=) c.989A= (p.His330=) c.1529A= (p.His510=) c.1148A= (p.His383=) c.635A= (p.His212=) | |
| 11 | g.2768858A>C | CA379138920 | KCNQ1 | c.1172A>C (p.His391Pro) c.989A>C (p.His330Pro) c.1529A>C (p.His510Pro) c.1148A>C (p.His383Pro) c.635A>C (p.His212Pro) | ClinVar dbSNP |
| 11 | g.2768858A>G | CA379138921 | KCNQ1 | c.1172A>G (p.His391Arg) c.989A>G (p.His330Arg) c.1529A>G (p.His510Arg) c.1148A>G (p.His383Arg) c.635A>G (p.His212Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2768858A>T | CA379138922 | KCNQ1 | c.1172A>T (p.His391Leu) c.989A>T (p.His330Leu) c.1529A>T (p.His510Leu) c.1148A>T (p.His383Leu) c.635A>T (p.His212Leu) | |
| 11 | g.2768859T>A | CA379138923 | KCNQ1 | c.1173T>A (p.His391Gln) c.990T>A (p.His330Gln) c.1530T>A (p.His510Gln) c.1149T>A (p.His383Gln) c.636T>A (p.His212Gln) | |
| 11 | g.2768859T>C | CA472459428 | KCNQ1 | c.1173T>C (p.His391=) c.990T>C (p.His330=) c.1530T>C (p.His510=) c.1149T>C (p.His383=) c.636T>C (p.His212=) | |
| 11 | g.2768859T>G | CA379138924 | KCNQ1 | c.1173T>G (p.His391Gln) c.990T>G (p.His330Gln) c.1530T>G (p.His510Gln) c.1149T>G (p.His383Gln) c.636T>G (p.His212Gln) | |
| 11 | g.2768860C>A | CA472459429 | KCNQ1 | c.1174C>A (p.Arg392=) c.991C>A (p.Arg331=) c.1531C>A (p.Arg511=) c.1150C>A (p.Arg384=) c.637C>A (p.Arg213=) | |
| 11 | g.2768860C= | CA1948309966 | KCNQ1 | c.1174C= (p.Arg392=) c.991C= (p.Arg331=) c.1531C= (p.Arg511=) c.1150C= (p.Arg384=) c.637C= (p.Arg213=) | |
| 11 | g.2768860C>G | CA379138925 | KCNQ1 | c.1174C>G (p.Arg392Gly) c.991C>G (p.Arg331Gly) c.1531C>G (p.Arg511Gly) c.1150C>G (p.Arg384Gly) c.637C>G (p.Arg213Gly) | |
| 11 | g.2768860C>T | CA005853 | KCNQ1 | c.1174C>T (p.Arg392Trp) c.991C>T (p.Arg331Trp) c.1531C>T (p.Arg511Trp) c.1150C>T (p.Arg384Trp) c.637C>T (p.Arg213Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2768860_2768861delinsCG | CA1948309968 | KCNQ1 | c.1174_1175delinsCG (p.Arg392=) c.991_992delinsCG (p.Arg331=) c.1531_1532delinsCG (p.Arg511=) c.1150_1151delinsCG (p.Arg384=) c.637_638delinsCG (p.Arg213=) |