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 |
|---|---|---|---|---|---|
| 1 | g.40838374G>A | CA339890729 | KCNQ4 | c.1939G>A (p.Gly647Ser) c.1520G>A n.1258G>A c.1777G>A (p.Gly593Ser) c.922G>A (p.Gly308Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.40838374G>C | CA339890731 | KCNQ4 | c.1939G>C (p.Gly647Arg) c.1520G>C n.1258G>C c.1777G>C (p.Gly593Arg) c.922G>C (p.Gly308Arg) | |
| 1 | g.40838374G= | CA1164553093 | KCNQ4 | c.1939G= (p.Gly647=) c.1520G= n.1258G= c.1777G= (p.Gly593=) c.922G= (p.Gly308=) | |
| 1 | g.40838374G>T | CA339890730 | KCNQ4 | c.1939G>T (p.Gly647Cys) c.1520G>T n.1258G>T c.1777G>T (p.Gly593Cys) c.922G>T (p.Gly308Cys) | |
| 1 | g.40838375G>A | CA339890732 | KCNQ4 | c.1940G>A (p.Gly647Asp) c.1521G>A n.1259G>A c.1778G>A (p.Gly593Asp) c.923G>A (p.Gly308Asp) | |
| 1 | g.40838375G>C | CA339890733 | KCNQ4 | c.1940G>C (p.Gly647Ala) c.1521G>C n.1259G>C c.1778G>C (p.Gly593Ala) c.923G>C (p.Gly308Ala) | |
| 1 | g.40838375G>T | CA339890734 | KCNQ4 | c.1940G>T (p.Gly647Val) c.1521G>T n.1259G>T c.1778G>T (p.Gly593Val) c.923G>T (p.Gly308Val) | COSMIC |
| 1 | g.40838376C>A | CA417358240 | KCNQ4 | c.1941C>A (p.Gly647=) c.1522C>A n.1260C>A c.1779C>A (p.Gly593=) c.924C>A (p.Gly308=) | |
| 1 | g.40838376C>G | CA417358239 | KCNQ4 | c.1941C>G (p.Gly647=) c.1522C>G n.1260C>G c.1779C>G (p.Gly593=) c.924C>G (p.Gly308=) | |
| 1 | g.40838376C>T | CA417358236 | KCNQ4 | c.1941C>T (p.Gly647=) c.1522C>T n.1260C>T c.1779C>T (p.Gly593=) c.924C>T (p.Gly308=) | |
| 1 | g.40838377A>C | CA339890735 | KCNQ4 | c.1942A>C (p.Thr648Pro) c.1523A>C n.1261A>C c.1780A>C (p.Thr594Pro) c.925A>C (p.Thr309Pro) | |
| 1 | g.40838377A>G | CA339890737 | KCNQ4 | c.1942A>G (p.Thr648Ala) c.1523A>G n.1261A>G c.1780A>G (p.Thr594Ala) c.925A>G (p.Thr309Ala) | |
| 1 | g.40838377A>T | CA339890738 | KCNQ4 | c.1942A>T (p.Thr648Ser) c.1523A>T n.1261A>T c.1780A>T (p.Thr594Ser) c.925A>T (p.Thr309Ser) | |
| 1 | g.40838378C>A | CA339890743 | KCNQ4 | c.1943C>A (p.Thr648Asn) c.1524C>A n.1262C>A c.1781C>A (p.Thr594Asn) c.926C>A (p.Thr309Asn) | |
| 1 | g.40838378C>G | CA339890745 | KCNQ4 | c.1943C>G (p.Thr648Ser) c.1524C>G n.1262C>G c.1781C>G (p.Thr594Ser) c.926C>G (p.Thr309Ser) | |
| 1 | g.40838378C>T | CA339890746 | KCNQ4 | c.1943C>T (p.Thr648Ile) c.1524C>T n.1262C>T c.1781C>T (p.Thr594Ile) c.926C>T (p.Thr309Ile) | |
| 1 | g.40838379C>A | CA417358242 | KCNQ4 | c.1944C>A (p.Thr648=) c.1525C>A n.1263C>A c.1782C>A (p.Thr594=) c.927C>A (p.Thr309=) | |
| 1 | g.40838379C= | CA1164553094 | KCNQ4 | c.1944C= (p.Thr648=) c.1525C= n.1263C= c.1782C= (p.Thr594=) c.927C= (p.Thr309=) | |
| 1 | g.40838379C>G | CA417358246 | KCNQ4 | c.1944C>G (p.Thr648=) c.1525C>G n.1263C>G c.1782C>G (p.Thr594=) c.927C>G (p.Thr309=) | |
| 1 | g.40838379C>T | CA417358244 | KCNQ4 | c.1944C>T (p.Thr648=) c.1525C>T n.1263C>T c.1782C>T (p.Thr594=) c.927C>T (p.Thr309=) | dbSNP |
| 1 | g.40838380T>A | CA339890752 | KCNQ4 | c.1945T>A (p.Ser649Thr) c.1526T>A n.1264T>A c.1783T>A (p.Ser595Thr) c.928T>A (p.Ser310Thr) | |
| 1 | g.40838380T>C | CA339890755 | KCNQ4 | c.1945T>C (p.Ser649Pro) c.1526T>C n.1264T>C c.1783T>C (p.Ser595Pro) c.928T>C (p.Ser310Pro) | |
| 1 | g.40838380T>G | CA339890748 | KCNQ4 | c.1945T>G (p.Ser649Ala) c.1526T>G n.1264T>G c.1783T>G (p.Ser595Ala) c.928T>G (p.Ser310Ala) | |
| 1 | g.40838381C>A | CA339890757 | KCNQ4 | c.1946C>A (p.Ser649Ter) c.1527C>A n.1265C>A c.1784C>A (p.Ser595Ter) c.929C>A (p.Ser310Ter) | |
| 1 | g.40838381C= | CA1164553095 | KCNQ4 | c.1946C= (p.Ser649=) c.1527C= n.1265C= c.1784C= (p.Ser595=) c.929C= (p.Ser310=) | |
| 1 | g.40838381C>G | CA339890764 | KCNQ4 | c.1946C>G (p.Ser649Trp) c.1527C>G n.1265C>G c.1784C>G (p.Ser595Trp) c.929C>G (p.Ser310Trp) | |
| 1 | g.40838381C>T | CA339890766 | KCNQ4 | c.1946C>T (p.Ser649Leu) c.1527C>T n.1265C>T c.1784C>T (p.Ser595Leu) c.929C>T (p.Ser310Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.40838382G>A | CA417358250 | KCNQ4 | c.1947G>A (p.Ser649=) c.1528G>A n.1266G>A c.1785G>A (p.Ser595=) c.930G>A (p.Ser310=) | gnomAD v4 COSMIC |
| 1 | g.40838382G>C | CA417358252 | KCNQ4 | c.1947G>C (p.Ser649=) c.1528G>C n.1266G>C c.1785G>C (p.Ser595=) c.930G>C (p.Ser310=) | |
| 1 | g.40838382G>T | CA417358253 | KCNQ4 | c.1947G>T (p.Ser649=) c.1528G>T n.1266G>T c.1785G>T (p.Ser595=) c.930G>T (p.Ser310=) | |
| 1 | g.40838383G>A | CA339890769 | KCNQ4 | c.1948G>A (p.Ala650Thr) c.1529G>A n.1267G>A c.1786G>A (p.Ala596Thr) c.931G>A (p.Ala311Thr) | dbSNP gnomAD v4 |
| 1 | g.40838383G>C | CA339890770 | KCNQ4 | c.1948G>C (p.Ala650Pro) c.1529G>C n.1267G>C c.1786G>C (p.Ala596Pro) c.931G>C (p.Ala311Pro) | |
| 1 | g.40838383G= | CA1164553096 | KCNQ4 | c.1948G= (p.Ala650=) c.1529G= n.1267G= c.1786G= (p.Ala596=) c.931G= (p.Ala311=) | |
| 1 | g.40838383G>T | CA21088641 | KCNQ4 | c.1948G>T (p.Ala650Ser) c.1529G>T n.1267G>T c.1786G>T (p.Ala596Ser) c.931G>T (p.Ala311Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40838384C>A | CA339890781 | KCNQ4 | c.1949C>A (p.Ala650Asp) c.1530C>A n.1268C>A c.1787C>A (p.Ala596Asp) c.932C>A (p.Ala311Asp) | |
| 1 | g.40838384C>G | CA339890782 | KCNQ4 | c.1949C>G (p.Ala650Gly) c.1530C>G n.1268C>G c.1787C>G (p.Ala596Gly) c.932C>G (p.Ala311Gly) | |
| 1 | g.40838384C>T | CA339890783 | KCNQ4 | c.1949C>T (p.Ala650Val) c.1530C>T n.1268C>T c.1787C>T (p.Ala596Val) c.932C>T (p.Ala311Val) | |
| 1 | g.40838385C>A | CA417358256 | KCNQ4 | c.1950C>A (p.Ala650=) c.1531C>A n.1269C>A c.1788C>A (p.Ala596=) c.933C>A (p.Ala311=) | |
| 1 | g.40838385C>G | CA417358257 | KCNQ4 | c.1950C>G (p.Ala650=) c.1531C>G n.1269C>G c.1788C>G (p.Ala596=) c.933C>G (p.Ala311=) | |
| 1 | g.40838385C>T | CA417358258 | KCNQ4 | c.1950C>T (p.Ala650=) c.1531C>T n.1269C>T c.1788C>T (p.Ala596=) c.933C>T (p.Ala311=) | gnomAD v4 |
| 1 | g.40838386A>C | CA339890784 | KCNQ4 | c.1951A>C (p.Ser651Arg) c.1532A>C n.1270A>C c.1789A>C (p.Ser597Arg) c.934A>C (p.Ser312Arg) | |
| 1 | g.40838386A>G | CA339890785 | KCNQ4 | c.1951A>G (p.Ser651Gly) c.1532A>G n.1270A>G c.1789A>G (p.Ser597Gly) c.934A>G (p.Ser312Gly) | |
| 1 | g.40838386A>T | CA339890786 | KCNQ4 | c.1951A>T (p.Ser651Cys) c.1532A>T n.1270A>T c.1789A>T (p.Ser597Cys) c.934A>T (p.Ser312Cys) | |
| 1 | g.40838387G>A | CA339890791 | KCNQ4 | c.1952G>A (p.Ser651Asn) c.1533G>A n.1271G>A c.1790G>A (p.Ser597Asn) c.935G>A (p.Ser312Asn) | gnomAD v4 |
| 1 | g.40838387G>C | CA339890793 | KCNQ4 | c.1952G>C (p.Ser651Thr) c.1533G>C n.1271G>C c.1790G>C (p.Ser597Thr) c.935G>C (p.Ser312Thr) | |
| 1 | g.40838387G>T | CA339890788 | KCNQ4 | c.1952G>T (p.Ser651Ile) c.1533G>T n.1271G>T c.1790G>T (p.Ser597Ile) c.935G>T (p.Ser312Ile) | gnomAD v4 |
| 1 | g.40838388C>A | CA339890796 | KCNQ4 | c.1953C>A (p.Ser651Arg) c.1534C>A n.1272C>A c.1791C>A (p.Ser597Arg) c.936C>A (p.Ser312Arg) | |
| 1 | g.40838388C>G | CA339890798 | KCNQ4 | c.1953C>G (p.Ser651Arg) c.1534C>G n.1272C>G c.1791C>G (p.Ser597Arg) c.936C>G (p.Ser312Arg) | |
| 1 | g.40838388C>T | CA417358264 | KCNQ4 | c.1953C>T (p.Ser651=) c.1534C>T n.1272C>T c.1791C>T (p.Ser597=) c.936C>T (p.Ser312=) | |
| 1 | g.40838389C>A | CA339890800 | KCNQ4 | c.1954C>A (p.Leu652Met) c.1535C>A n.1273C>A c.1792C>A (p.Leu598Met) c.937C>A (p.Leu313Met) |