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 |
|---|---|---|---|---|---|
| 4 | g.1805876T>A | CA355981891 | FGFR3 | c.1778T>A (p.Phe593Tyr) c.*828T>A (n.*828T>A) c.1436T>A (p.Phe479Tyr) c.1760T>A (p.Phe587Tyr) c.1772T>A (p.Phe591Tyr) c.1775T>A (p.Phe592Tyr) c.1784T>A (p.Phe595Tyr) c.1781T>A (p.Phe594Tyr) n.2179T>A n.2198T>A | |
| 4 | g.1805876T>C | CA355981892 | FGFR3 | c.1778T>C (p.Phe593Ser) c.*828T>C (n.*828T>C) c.1436T>C (p.Phe479Ser) c.1760T>C (p.Phe587Ser) c.1772T>C (p.Phe591Ser) c.1775T>C (p.Phe592Ser) c.1784T>C (p.Phe595Ser) c.1781T>C (p.Phe594Ser) n.2179T>C n.2198T>C | |
| 4 | g.1805876T>G | CA2810574 | FGFR3 | c.1778T>G (p.Phe593Cys) c.*828T>G (n.*828T>G) c.1436T>G (p.Phe479Cys) c.1760T>G (p.Phe587Cys) c.1772T>G (p.Phe591Cys) c.1775T>G (p.Phe592Cys) c.1784T>G (p.Phe595Cys) c.1781T>G (p.Phe594Cys) n.2179T>G n.2198T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1805876T= | CA1433507666 | FGFR3 | c.1778T= (p.Phe593=) c.*828T= (n.*828T=) c.1436T= (p.Phe479=) c.1760T= (p.Phe587=) c.1772T= (p.Phe591=) c.1775T= (p.Phe592=) c.1784T= (p.Phe595=) c.1781T= (p.Phe594=) n.2179T= n.2198T= | |
| 4 | g.1805877C>A | CA355981893 | FGFR3 | c.1779C>A (p.Phe593Leu) c.*829C>A (n.*829C>A) c.1437C>A (p.Phe479Leu) c.1761C>A (p.Phe587Leu) c.1773C>A (p.Phe591Leu) c.1776C>A (p.Phe592Leu) c.1785C>A (p.Phe595Leu) c.1782C>A (p.Phe594Leu) n.2180C>A n.2199C>A | |
| 4 | g.1805877C= | CA1433507667 | FGFR3 | c.1779C= (p.Phe593=) c.*829C= (n.*829C=) c.1437C= (p.Phe479=) c.1761C= (p.Phe587=) c.1773C= (p.Phe591=) c.1776C= (p.Phe592=) c.1785C= (p.Phe595=) c.1782C= (p.Phe594=) n.2180C= n.2199C= | |
| 4 | g.1805877C>G | CA2810576 | FGFR3 | c.1779C>G (p.Phe593Leu) c.*829C>G (n.*829C>G) c.1437C>G (p.Phe479Leu) c.1761C>G (p.Phe587Leu) c.1773C>G (p.Phe591Leu) c.1776C>G (p.Phe592Leu) c.1785C>G (p.Phe595Leu) c.1782C>G (p.Phe594Leu) n.2180C>G n.2199C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1805877C>T | CA2810575 | FGFR3 | c.1779C>T (p.Phe593=) c.*829C>T (n.*829C>T) c.1437C>T (p.Phe479=) c.1761C>T (p.Phe587=) c.1773C>T (p.Phe591=) c.1776C>T (p.Phe592=) c.1785C>T (p.Phe595=) c.1782C>T (p.Phe594=) n.2180C>T n.2199C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1805878A>C | CA355981895 | FGFR3 | c.1780A>C (p.Lys594Gln) c.*830A>C (n.*830A>C) c.1438A>C (p.Lys480Gln) c.1762A>C (p.Lys588Gln) c.1774A>C (p.Lys592Gln) c.1777A>C (p.Lys593Gln) c.1786A>C (p.Lys596Gln) c.1783A>C (p.Lys595Gln) n.2181A>C n.2200A>C | |
| 4 | g.1805878A>G | CA355981896 | FGFR3 | c.1780A>G (p.Lys594Glu) c.*830A>G (n.*830A>G) c.1438A>G (p.Lys480Glu) c.1762A>G (p.Lys588Glu) c.1774A>G (p.Lys592Glu) c.1777A>G (p.Lys593Glu) c.1786A>G (p.Lys596Glu) c.1783A>G (p.Lys595Glu) n.2181A>G n.2200A>G | |
| 4 | g.1805878A>T | CA355981894 | FGFR3 | c.1780A>T (p.Lys594Ter) c.*830A>T (n.*830A>T) c.1438A>T (p.Lys480Ter) c.1762A>T (p.Lys588Ter) c.1774A>T (p.Lys592Ter) c.1777A>T (p.Lys593Ter) c.1786A>T (p.Lys596Ter) c.1783A>T (p.Lys595Ter) n.2181A>T n.2200A>T | |
| 4 | g.1805879A>C | CA355981897 | FGFR3 | c.1781A>C (p.Lys594Thr) c.*831A>C (n.*831A>C) c.1439A>C (p.Lys480Thr) c.1763A>C (p.Lys588Thr) c.1775A>C (p.Lys592Thr) c.1778A>C (p.Lys593Thr) c.1787A>C (p.Lys596Thr) c.1784A>C (p.Lys595Thr) n.2182A>C n.2201A>C | |
| 4 | g.1805879A>G | CA355981898 | FGFR3 | c.1781A>G (p.Lys594Arg) c.*831A>G (n.*831A>G) c.1439A>G (p.Lys480Arg) c.1763A>G (p.Lys588Arg) c.1775A>G (p.Lys592Arg) c.1778A>G (p.Lys593Arg) c.1787A>G (p.Lys596Arg) c.1784A>G (p.Lys595Arg) n.2182A>G n.2201A>G | |
| 4 | g.1805879A>T | CA355981899 | FGFR3 | c.1781A>T (p.Lys594Met) c.*831A>T (n.*831A>T) c.1439A>T (p.Lys480Met) c.1763A>T (p.Lys588Met) c.1775A>T (p.Lys592Met) c.1778A>T (p.Lys593Met) c.1787A>T (p.Lys596Met) c.1784A>T (p.Lys595Met) n.2182A>T n.2201A>T | |
| 4 | g.1805880G>A | CA2810577 | FGFR3 | c.1782G>A (p.Lys594=) c.*832G>A (n.*832G>A) c.1440G>A (p.Lys480=) c.1764G>A (p.Lys588=) c.1776G>A (p.Lys592=) c.1779G>A (p.Lys593=) c.1788G>A (p.Lys596=) c.1785G>A (p.Lys595=) n.2183G>A n.2202G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1805880G>C | CA355981900 | FGFR3 | c.1782G>C (p.Lys594Asn) c.*832G>C (n.*832G>C) c.1440G>C (p.Lys480Asn) c.1764G>C (p.Lys588Asn) c.1776G>C (p.Lys592Asn) c.1779G>C (p.Lys593Asn) c.1788G>C (p.Lys596Asn) c.1785G>C (p.Lys595Asn) n.2183G>C n.2202G>C | |
| 4 | g.1805880G= | CA1433507668 | FGFR3 | c.1782G= (p.Lys594=) c.*832G= (n.*832G=) c.1440G= (p.Lys480=) c.1764G= (p.Lys588=) c.1776G= (p.Lys592=) c.1779G= (p.Lys593=) c.1788G= (p.Lys596=) c.1785G= (p.Lys595=) n.2183G= n.2202G= | |
| 4 | g.1805880G>T | CA355981901 | FGFR3 | c.1782G>T (p.Lys594Asn) c.*832G>T (n.*832G>T) c.1440G>T (p.Lys480Asn) c.1764G>T (p.Lys588Asn) c.1776G>T (p.Lys592Asn) c.1779G>T (p.Lys593Asn) c.1788G>T (p.Lys596Asn) c.1785G>T (p.Lys595Asn) n.2183G>T n.2202G>T | |
| 4 | g.1805881G>A | CA355981903 | FGFR3 | c.1783G>A (p.Asp595Asn) c.*833G>A (n.*833G>A) c.1441G>A (p.Asp481Asn) c.1765G>A (p.Asp589Asn) c.1777G>A (p.Asp593Asn) c.1780G>A (p.Asp594Asn) c.1789G>A (p.Asp597Asn) c.1786G>A (p.Asp596Asn) n.2184G>A n.2203G>A | gnomAD v4 |
| 4 | g.1805881G>C | CA91257303 | FGFR3 | c.1783G>C (p.Asp595His) c.*833G>C (n.*833G>C) c.1441G>C (p.Asp481His) c.1765G>C (p.Asp589His) c.1777G>C (p.Asp593His) c.1780G>C (p.Asp594His) c.1789G>C (p.Asp597His) c.1786G>C (p.Asp596His) n.2184G>C n.2203G>C | dbSNP gnomAD v4 |
| 4 | g.1805881G= | CA1433507669 | FGFR3 | c.1783G= (p.Asp595=) c.*833G= (n.*833G=) c.1441G= (p.Asp481=) c.1765G= (p.Asp589=) c.1777G= (p.Asp593=) c.1780G= (p.Asp594=) c.1789G= (p.Asp597=) c.1786G= (p.Asp596=) n.2184G= n.2203G= | |
| 4 | g.1805881G>T | CA355981902 | FGFR3 | c.1783G>T (p.Asp595Tyr) c.*833G>T (n.*833G>T) c.1441G>T (p.Asp481Tyr) c.1765G>T (p.Asp589Tyr) c.1777G>T (p.Asp593Tyr) c.1780G>T (p.Asp594Tyr) c.1789G>T (p.Asp597Tyr) c.1786G>T (p.Asp596Tyr) n.2184G>T n.2203G>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1805881_1805882delinsTG | CA2697557053 | FGFR3 | c.1783_1784delinsTG (p.Asp595Cys) c.*833_*834delinsTG (n.*833_*834delinsTG) c.1441_1442delinsTG (p.Asp481Cys) c.1765_1766delinsTG (p.Asp589Cys) c.1777_1778delinsTG (p.Asp593Cys) c.1780_1781delinsTG (p.Asp594Cys) c.1789_1790delinsTG (p.Asp597Cys) c.1786_1787delinsTG (p.Asp596Cys) n.2184_2185delinsTG n.2203_2204delinsTG | ClinVar |
| 4 | g.1805882A>C | CA355981904 | FGFR3 | c.1784A>C (p.Asp595Ala) c.*834A>C (n.*834A>C) c.1442A>C (p.Asp481Ala) c.1766A>C (p.Asp589Ala) c.1778A>C (p.Asp593Ala) c.1781A>C (p.Asp594Ala) c.1790A>C (p.Asp597Ala) c.1787A>C (p.Asp596Ala) n.2185A>C n.2204A>C | |
| 4 | g.1805882A>G | CA355981905 | FGFR3 | c.1784A>G (p.Asp595Gly) c.*834A>G (n.*834A>G) c.1442A>G (p.Asp481Gly) c.1766A>G (p.Asp589Gly) c.1778A>G (p.Asp593Gly) c.1781A>G (p.Asp594Gly) c.1790A>G (p.Asp597Gly) c.1787A>G (p.Asp596Gly) n.2185A>G n.2204A>G | gnomAD v4 |
| 4 | g.1805882A>T | CA355981906 | FGFR3 | c.1784A>T (p.Asp595Val) c.*834A>T (n.*834A>T) c.1442A>T (p.Asp481Val) c.1766A>T (p.Asp589Val) c.1778A>T (p.Asp593Val) c.1781A>T (p.Asp594Val) c.1790A>T (p.Asp597Val) c.1787A>T (p.Asp596Val) n.2185A>T n.2204A>T | dbSNP |
| 4 | g.1805883C>A | CA355981907 | FGFR3 | c.1785C>A (p.Asp595Glu) c.*835C>A (n.*835C>A) c.1443C>A (p.Asp481Glu) c.1767C>A (p.Asp589Glu) c.1779C>A (p.Asp593Glu) c.1782C>A (p.Asp594Glu) c.1791C>A (p.Asp597Glu) c.1788C>A (p.Asp596Glu) n.2186C>A n.2205C>A | |
| 4 | g.1805883C= | CA1433507670 | FGFR3 | c.1785C= (p.Asp595=) c.*835C= (n.*835C=) c.1443C= (p.Asp481=) c.1767C= (p.Asp589=) c.1779C= (p.Asp593=) c.1782C= (p.Asp594=) c.1791C= (p.Asp597=) c.1788C= (p.Asp596=) n.2186C= n.2205C= | |
| 4 | g.1805883C>G | CA355981908 | FGFR3 | c.1785C>G (p.Asp595Glu) c.*835C>G (n.*835C>G) c.1443C>G (p.Asp481Glu) c.1767C>G (p.Asp589Glu) c.1779C>G (p.Asp593Glu) c.1782C>G (p.Asp594Glu) c.1791C>G (p.Asp597Glu) c.1788C>G (p.Asp596Glu) n.2186C>G n.2205C>G | dbSNP gnomAD v4 |
| 4 | g.1805883C>T | CA2810578 | FGFR3 | c.1785C>T (p.Asp595=) c.*835C>T (n.*835C>T) c.1443C>T (p.Asp481=) c.1767C>T (p.Asp589=) c.1779C>T (p.Asp593=) c.1782C>T (p.Asp594=) c.1791C>T (p.Asp597=) c.1788C>T (p.Asp596=) n.2186C>T n.2205C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1805884C>A | CA355981909 | FGFR3 | c.1786C>A (p.Leu596Met) c.*836C>A (n.*836C>A) c.1444C>A (p.Leu482Met) c.1768C>A (p.Leu590Met) c.1780C>A (p.Leu594Met) c.1783C>A (p.Leu595Met) c.1792C>A (p.Leu598Met) c.1789C>A (p.Leu597Met) n.2187C>A n.2206C>A | |
| 4 | g.1805884C= | CA1433507671 | FGFR3 | c.1786C= (p.Leu596=) c.*836C= (n.*836C=) c.1444C= (p.Leu482=) c.1768C= (p.Leu590=) c.1780C= (p.Leu594=) c.1783C= (p.Leu595=) c.1792C= (p.Leu598=) c.1789C= (p.Leu597=) n.2187C= n.2206C= | |
| 4 | g.1805884C>G | CA355981910 | FGFR3 | c.1786C>G (p.Leu596Val) c.*836C>G (n.*836C>G) c.1444C>G (p.Leu482Val) c.1768C>G (p.Leu590Val) c.1780C>G (p.Leu594Val) c.1783C>G (p.Leu595Val) c.1792C>G (p.Leu598Val) c.1789C>G (p.Leu597Val) n.2187C>G n.2206C>G | |
| 4 | g.1805884C>T | CA2810579 | FGFR3 | c.1786C>T (p.Leu596=) c.*836C>T (n.*836C>T) c.1444C>T (p.Leu482=) c.1768C>T (p.Leu590=) c.1780C>T (p.Leu594=) c.1783C>T (p.Leu595=) c.1792C>T (p.Leu598=) c.1789C>T (p.Leu597=) n.2187C>T n.2206C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1805885T>A | CA355981911 | FGFR3 | c.1787T>A (p.Leu596Gln) c.*837T>A (n.*837T>A) c.1445T>A (p.Leu482Gln) c.1769T>A (p.Leu590Gln) c.1781T>A (p.Leu594Gln) c.1784T>A (p.Leu595Gln) c.1793T>A (p.Leu598Gln) c.1790T>A (p.Leu597Gln) n.2188T>A n.2207T>A | |
| 4 | g.1805885T>C | CA355981912 | FGFR3 | c.1787T>C (p.Leu596Pro) c.*837T>C (n.*837T>C) c.1445T>C (p.Leu482Pro) c.1769T>C (p.Leu590Pro) c.1781T>C (p.Leu594Pro) c.1784T>C (p.Leu595Pro) c.1793T>C (p.Leu598Pro) c.1790T>C (p.Leu597Pro) n.2188T>C n.2207T>C | |
| 4 | g.1805885T>G | CA355981913 | FGFR3 | c.1787T>G (p.Leu596Arg) c.*837T>G (n.*837T>G) c.1445T>G (p.Leu482Arg) c.1769T>G (p.Leu590Arg) c.1781T>G (p.Leu594Arg) c.1784T>G (p.Leu595Arg) c.1793T>G (p.Leu598Arg) c.1790T>G (p.Leu597Arg) n.2188T>G n.2207T>G | |
| 4 | g.1805886G>A | CA438063155 | FGFR3 | c.1788G>A (p.Leu596=) c.*838G>A (n.*838G>A) c.1446G>A (p.Leu482=) c.1770G>A (p.Leu590=) c.1782G>A (p.Leu594=) c.1785G>A (p.Leu595=) c.1794G>A (p.Leu598=) c.1791G>A (p.Leu597=) n.2189G>A n.2208G>A | dbSNP gnomAD v4 |
| 4 | g.1805886G>C | CA438063157 | FGFR3 | c.1788G>C (p.Leu596=) c.*838G>C (n.*838G>C) c.1446G>C (p.Leu482=) c.1770G>C (p.Leu590=) c.1782G>C (p.Leu594=) c.1785G>C (p.Leu595=) c.1794G>C (p.Leu598=) c.1791G>C (p.Leu597=) n.2189G>C n.2208G>C | |
| 4 | g.1805886G= | CA1433507672 | FGFR3 | c.1788G= (p.Leu596=) c.*838G= (n.*838G=) c.1446G= (p.Leu482=) c.1770G= (p.Leu590=) c.1782G= (p.Leu594=) c.1785G= (p.Leu595=) c.1794G= (p.Leu598=) c.1791G= (p.Leu597=) n.2189G= n.2208G= | |
| 4 | g.1805886G>T | CA438063156 | FGFR3 | c.1788G>T (p.Leu596=) c.*838G>T (n.*838G>T) c.1446G>T (p.Leu482=) c.1770G>T (p.Leu590=) c.1782G>T (p.Leu594=) c.1785G>T (p.Leu595=) c.1794G>T (p.Leu598=) c.1791G>T (p.Leu597=) n.2189G>T n.2208G>T | |
| 4 | g.1805887G>A | CA355981914 | FGFR3 | c.1789G>A (p.Val597Met) c.*839G>A (n.*839G>A) c.1447G>A (p.Val483Met) c.1771G>A (p.Val591Met) c.1783G>A (p.Val595Met) c.1786G>A (p.Val596Met) c.1795G>A (p.Val599Met) c.1792G>A (p.Val598Met) n.2190G>A n.2209G>A | |
| 4 | g.1805887G>C | CA355981915 | FGFR3 | c.1789G>C (p.Val597Leu) c.*839G>C (n.*839G>C) c.1447G>C (p.Val483Leu) c.1771G>C (p.Val591Leu) c.1783G>C (p.Val595Leu) c.1786G>C (p.Val596Leu) c.1795G>C (p.Val599Leu) c.1792G>C (p.Val598Leu) n.2190G>C n.2209G>C | gnomAD v4 |
| 4 | g.1805887G>T | CA355981916 | FGFR3 | c.1789G>T (p.Val597Leu) c.*839G>T (n.*839G>T) c.1447G>T (p.Val483Leu) c.1771G>T (p.Val591Leu) c.1783G>T (p.Val595Leu) c.1786G>T (p.Val596Leu) c.1795G>T (p.Val599Leu) c.1792G>T (p.Val598Leu) n.2190G>T n.2209G>T | gnomAD v4 |
| 4 | g.1805888T>A | CA355981917 | FGFR3 | c.1790T>A (p.Val597Glu) c.*840T>A (n.*840T>A) c.1448T>A (p.Val483Glu) c.1772T>A (p.Val591Glu) c.1784T>A (p.Val595Glu) c.1787T>A (p.Val596Glu) c.1796T>A (p.Val599Glu) c.1793T>A (p.Val598Glu) n.2191T>A n.2210T>A | |
| 4 | g.1805888T>C | CA355981918 | FGFR3 | c.1790T>C (p.Val597Ala) c.*840T>C (n.*840T>C) c.1448T>C (p.Val483Ala) c.1772T>C (p.Val591Ala) c.1784T>C (p.Val595Ala) c.1787T>C (p.Val596Ala) c.1796T>C (p.Val599Ala) c.1793T>C (p.Val598Ala) n.2191T>C n.2210T>C | |
| 4 | g.1805888T>G | CA355981919 | FGFR3 | c.1790T>G (p.Val597Gly) c.*840T>G (n.*840T>G) c.1448T>G (p.Val483Gly) c.1772T>G (p.Val591Gly) c.1784T>G (p.Val595Gly) c.1787T>G (p.Val596Gly) c.1796T>G (p.Val599Gly) c.1793T>G (p.Val598Gly) n.2191T>G n.2210T>G | |
| 4 | g.1805889G>A | CA438063158 | FGFR3 | c.1791G>A (p.Val597=) c.*841G>A (n.*841G>A) c.1449G>A (p.Val483=) c.1773G>A (p.Val591=) c.1785G>A (p.Val595=) c.1788G>A (p.Val596=) c.1797G>A (p.Val599=) c.1794G>A (p.Val598=) n.2192G>A n.2211G>A | |
| 4 | g.1805889G>C | CA438063160 | FGFR3 | c.1791G>C (p.Val597=) c.*841G>C (n.*841G>C) c.1449G>C (p.Val483=) c.1773G>C (p.Val591=) c.1785G>C (p.Val595=) c.1788G>C (p.Val596=) c.1797G>C (p.Val599=) c.1794G>C (p.Val598=) n.2192G>C n.2211G>C | |
| 4 | g.1805889G>T | CA438063159 | FGFR3 | c.1791G>T (p.Val597=) c.*841G>T (n.*841G>T) c.1449G>T (p.Val483=) c.1773G>T (p.Val591=) c.1785G>T (p.Val595=) c.1788G>T (p.Val596=) c.1797G>T (p.Val599=) c.1794G>T (p.Val598=) n.2192G>T n.2211G>T |