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 |
|---|---|---|---|---|---|
| 5 | g.177097538C>A | CA447959130 | FGFR4 | c.2271C>A (p.Leu757=) c.2151C>A (p.Leu717=) c.2067C>A (p.Leu689=) n.219C>A c.2364C>A (p.Leu788=) c.1953C>A (p.Leu651=) | |
| 5 | g.177097538C= | CA1603407710 | FGFR4 | c.2271C= (p.Leu757=) c.2151C= (p.Leu717=) c.2067C= (p.Leu689=) n.219C= c.2364C= (p.Leu788=) c.1953C= (p.Leu651=) | |
| 5 | g.177097538C>G | CA447959133 | FGFR4 | c.2271C>G (p.Leu757=) c.2151C>G (p.Leu717=) c.2067C>G (p.Leu689=) n.219C>G c.2364C>G (p.Leu788=) c.1953C>G (p.Leu651=) | |
| 5 | g.177097538C>T | CA3576774 | FGFR4 | c.2271C>T (p.Leu757=) c.2151C>T (p.Leu717=) c.2067C>T (p.Leu689=) n.219C>T c.2364C>T (p.Leu788=) c.1953C>T (p.Leu651=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177097539C>A | CA362299646 | FGFR4 | c.2272C>A (p.Arg758Ser) c.2152C>A (p.Arg718Ser) c.2068C>A (p.Arg690Ser) n.220C>A c.2365C>A (p.Arg789Ser) c.1954C>A (p.Arg652Ser) | |
| 5 | g.177097539C= | CA1603407714 | FGFR4 | c.2272C= (p.Arg758=) c.2152C= (p.Arg718=) c.2068C= (p.Arg690=) n.220C= c.2365C= (p.Arg789=) c.1954C= (p.Arg652=) | |
| 5 | g.177097539C>G | CA362299647 | FGFR4 | c.2272C>G (p.Arg758Gly) c.2152C>G (p.Arg718Gly) c.2068C>G (p.Arg690Gly) n.220C>G c.2365C>G (p.Arg789Gly) c.1954C>G (p.Arg652Gly) | |
| 5 | g.177097539C>T | CA3576775 | FGFR4 | c.2272C>T (p.Arg758Cys) c.2152C>T (p.Arg718Cys) c.2068C>T (p.Arg690Cys) n.220C>T c.2365C>T (p.Arg789Cys) c.1954C>T (p.Arg652Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177097540G>A | CA3576776 | FGFR4 | c.2273G>A (p.Arg758His) c.2153G>A (p.Arg718His) c.2069G>A (p.Arg690His) n.221G>A c.2366G>A (p.Arg789His) c.1955G>A (p.Arg652His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177097540G>C | CA362299650 | FGFR4 | c.2273G>C (p.Arg758Pro) c.2153G>C (p.Arg718Pro) c.2069G>C (p.Arg690Pro) n.221G>C c.2366G>C (p.Arg789Pro) c.1955G>C (p.Arg652Pro) | |
| 5 | g.177097540G= | CA1603407717 | FGFR4 | c.2273G= (p.Arg758=) c.2153G= (p.Arg718=) c.2069G= (p.Arg690=) n.221G= c.2366G= (p.Arg789=) c.1955G= (p.Arg652=) | |
| 5 | g.177097540G>T | CA362299651 | FGFR4 | c.2273G>T (p.Arg758Leu) c.2153G>T (p.Arg718Leu) c.2069G>T (p.Arg690Leu) n.221G>T c.2366G>T (p.Arg789Leu) c.1955G>T (p.Arg652Leu) | gnomAD v4 |
| 5 | g.177097541C>A | CA447959153 | FGFR4 | c.2274C>A (p.Arg758=) c.2154C>A (p.Arg718=) c.2070C>A (p.Arg690=) n.222C>A c.2367C>A (p.Arg789=) c.1956C>A (p.Arg652=) | |
| 5 | g.177097541C>G | CA447959156 | FGFR4 | c.2274C>G (p.Arg758=) c.2154C>G (p.Arg718=) c.2070C>G (p.Arg690=) n.222C>G c.2367C>G (p.Arg789=) c.1956C>G (p.Arg652=) | |
| 5 | g.177097541C>T | CA447959154 | FGFR4 | c.2274C>T (p.Arg758=) c.2154C>T (p.Arg718=) c.2070C>T (p.Arg690=) n.222C>T c.2367C>T (p.Arg789=) c.1956C>T (p.Arg652=) | |
| 5 | g.177097542C>A | CA362299657 | FGFR4 | c.2275C>A (p.Leu759Met) c.2155C>A (p.Leu719Met) c.2071C>A (p.Leu691Met) n.223C>A c.2368C>A (p.Leu790Met) c.1957C>A (p.Leu653Met) | |
| 5 | g.177097542C= | CA1603407724 | FGFR4 | c.2275C= (p.Leu759=) c.2155C= (p.Leu719=) c.2071C= (p.Leu691=) n.223C= c.2368C= (p.Leu790=) c.1957C= (p.Leu653=) | |
| 5 | g.177097542C>G | CA362299654 | FGFR4 | c.2275C>G (p.Leu759Val) c.2155C>G (p.Leu719Val) c.2071C>G (p.Leu691Val) n.223C>G c.2368C>G (p.Leu790Val) c.1957C>G (p.Leu653Val) | |
| 5 | g.177097542C>T | CA3576777 | FGFR4 | c.2275C>T (p.Leu759=) c.2155C>T (p.Leu719=) c.2071C>T (p.Leu691=) n.223C>T c.2368C>T (p.Leu790=) c.1957C>T (p.Leu653=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177097543T>A | CA362299659 | FGFR4 | c.2276T>A (p.Leu759Gln) c.2156T>A (p.Leu719Gln) c.2072T>A (p.Leu691Gln) n.224T>A c.2369T>A (p.Leu790Gln) c.1958T>A (p.Leu653Gln) | |
| 5 | g.177097543T>C | CA362299660 | FGFR4 | c.2276T>C (p.Leu759Pro) c.2156T>C (p.Leu719Pro) c.2072T>C (p.Leu691Pro) n.224T>C c.2369T>C (p.Leu790Pro) c.1958T>C (p.Leu653Pro) | |
| 5 | g.177097543T>G | CA362299662 | FGFR4 | c.2276T>G (p.Leu759Arg) c.2156T>G (p.Leu719Arg) c.2072T>G (p.Leu691Arg) n.224T>G c.2369T>G (p.Leu790Arg) c.1958T>G (p.Leu653Arg) | |
| 5 | g.177097544G>A | CA447959160 | FGFR4 | c.2277G>A (p.Leu759=) c.2157G>A (p.Leu719=) c.2073G>A (p.Leu691=) n.225G>A c.2370G>A (p.Leu790=) c.1959G>A (p.Leu653=) | gnomAD v4 |
| 5 | g.177097544G>C | CA447959161 | FGFR4 | c.2277G>C (p.Leu759=) c.2157G>C (p.Leu719=) c.2073G>C (p.Leu691=) n.225G>C c.2370G>C (p.Leu790=) c.1959G>C (p.Leu653=) | |
| 5 | g.177097544G>T | CA447959162 | FGFR4 | c.2277G>T (p.Leu759=) c.2157G>T (p.Leu719=) c.2073G>T (p.Leu691=) n.225G>T c.2370G>T (p.Leu790=) c.1959G>T (p.Leu653=) | |
| 5 | g.177097545A>C | CA362299663 | FGFR4 | c.2278A>C (p.Thr760Pro) c.2158A>C (p.Thr720Pro) c.2074A>C (p.Thr692Pro) n.226A>C c.2371A>C (p.Thr791Pro) c.1960A>C (p.Thr654Pro) | |
| 5 | g.177097545A>G | CA362299665 | FGFR4 | c.2278A>G (p.Thr760Ala) c.2158A>G (p.Thr720Ala) c.2074A>G (p.Thr692Ala) n.226A>G c.2371A>G (p.Thr791Ala) c.1960A>G (p.Thr654Ala) | |
| 5 | g.177097545A>T | CA362299667 | FGFR4 | c.2278A>T (p.Thr760Ser) c.2158A>T (p.Thr720Ser) c.2074A>T (p.Thr692Ser) n.226A>T c.2371A>T (p.Thr791Ser) c.1960A>T (p.Thr654Ser) | dbSNP |
| 5 | g.177097546C>A | CA362299673 | FGFR4 | c.2279C>A (p.Thr760Asn) c.2159C>A (p.Thr720Asn) c.2075C>A (p.Thr692Asn) n.227C>A c.2372C>A (p.Thr791Asn) c.1961C>A (p.Thr654Asn) | |
| 5 | g.177097546C>G | CA362299671 | FGFR4 | c.2279C>G (p.Thr760Ser) c.2159C>G (p.Thr720Ser) c.2075C>G (p.Thr692Ser) n.227C>G c.2372C>G (p.Thr791Ser) c.1961C>G (p.Thr654Ser) | |
| 5 | g.177097546C>T | CA362299669 | FGFR4 | c.2279C>T (p.Thr760Ile) c.2159C>T (p.Thr720Ile) c.2075C>T (p.Thr692Ile) n.227C>T c.2372C>T (p.Thr791Ile) c.1961C>T (p.Thr654Ile) | |
| 5 | g.177097547C>A | CA447959164 | FGFR4 | c.2280C>A (p.Thr760=) c.2160C>A (p.Thr720=) c.2076C>A (p.Thr692=) n.228C>A c.2373C>A (p.Thr791=) c.1962C>A (p.Thr654=) | |
| 5 | g.177097547C>G | CA447959165 | FGFR4 | c.2280C>G (p.Thr760=) c.2160C>G (p.Thr720=) c.2076C>G (p.Thr692=) n.228C>G c.2373C>G (p.Thr791=) c.1962C>G (p.Thr654=) | |
| 5 | g.177097547C>T | CA447959166 | FGFR4 | c.2280C>T (p.Thr760=) c.2160C>T (p.Thr720=) c.2076C>T (p.Thr692=) n.228C>T c.2373C>T (p.Thr791=) c.1962C>T (p.Thr654=) | gnomAD v4 |
| 5 | g.177097548T>A | CA362299674 | FGFR4 | c.2281T>A (p.Phe761Ile) c.2161T>A (p.Phe721Ile) c.2077T>A (p.Phe693Ile) n.229T>A c.2374T>A (p.Phe792Ile) c.1963T>A (p.Phe655Ile) | |
| 5 | g.177097548T>C | CA362299675 | FGFR4 | c.2281T>C (p.Phe761Leu) c.2161T>C (p.Phe721Leu) c.2077T>C (p.Phe693Leu) n.229T>C c.2374T>C (p.Phe792Leu) c.1963T>C (p.Phe655Leu) | |
| 5 | g.177097548T>G | CA362299677 | FGFR4 | c.2281T>G (p.Phe761Val) c.2161T>G (p.Phe721Val) c.2077T>G (p.Phe693Val) n.229T>G c.2374T>G (p.Phe792Val) c.1963T>G (p.Phe655Val) | gnomAD v4 |
| 5 | g.177097549T>A | CA362299679 | FGFR4 | c.2282T>A (p.Phe761Tyr) c.2162T>A (p.Phe721Tyr) c.2078T>A (p.Phe693Tyr) n.230T>A c.2375T>A (p.Phe792Tyr) c.1964T>A (p.Phe655Tyr) | |
| 5 | g.177097549T>C | CA362299681 | FGFR4 | c.2282T>C (p.Phe761Ser) c.2162T>C (p.Phe721Ser) c.2078T>C (p.Phe693Ser) n.230T>C c.2375T>C (p.Phe792Ser) c.1964T>C (p.Phe655Ser) | |
| 5 | g.177097549T>G | CA362299682 | FGFR4 | c.2282T>G (p.Phe761Cys) c.2162T>G (p.Phe721Cys) c.2078T>G (p.Phe693Cys) n.230T>G c.2375T>G (p.Phe792Cys) c.1964T>G (p.Phe655Cys) | |
| 5 | g.177097550C>A | CA362299687 | FGFR4 | c.2283C>A (p.Phe761Leu) c.2163C>A (p.Phe721Leu) c.2079C>A (p.Phe693Leu) n.231C>A c.2376C>A (p.Phe792Leu) c.1965C>A (p.Phe655Leu) | |
| 5 | g.177097550C= | CA1603407738 | FGFR4 | c.2283C= (p.Phe761=) c.2163C= (p.Phe721=) c.2079C= (p.Phe693=) n.231C= c.2376C= (p.Phe792=) c.1965C= (p.Phe655=) | |
| 5 | g.177097550C>G | CA362299684 | FGFR4 | c.2283C>G (p.Phe761Leu) c.2163C>G (p.Phe721Leu) c.2079C>G (p.Phe693Leu) n.231C>G c.2376C>G (p.Phe792Leu) c.1965C>G (p.Phe655Leu) | gnomAD v4 |
| 5 | g.177097550C>T | CA3576778 | FGFR4 | c.2283C>T (p.Phe761=) c.2163C>T (p.Phe721=) c.2079C>T (p.Phe693=) n.231C>T c.2376C>T (p.Phe792=) c.1965C>T (p.Phe655=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.177097551G>A | CA362299688 | FGFR4 | c.2284G>A (p.Gly762Arg) c.2164G>A (p.Gly722Arg) c.2080G>A (p.Gly694Arg) n.232G>A c.2377G>A (p.Gly793Arg) c.1966G>A (p.Gly656Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.177097551G>C | CA362299689 | FGFR4 | c.2284G>C (p.Gly762Arg) c.2164G>C (p.Gly722Arg) c.2080G>C (p.Gly694Arg) n.232G>C c.2377G>C (p.Gly793Arg) c.1966G>C (p.Gly656Arg) | gnomAD v4 |
| 5 | g.177097551G= | CA1603407748 | FGFR4 | c.2284G= (p.Gly762=) c.2164G= (p.Gly722=) c.2080G= (p.Gly694=) n.232G= c.2377G= (p.Gly793=) c.1966G= (p.Gly656=) | |
| 5 | g.177097551G>T | CA362299691 | FGFR4 | c.2284G>T (p.Gly762Ter) c.2164G>T (p.Gly722Ter) c.2080G>T (p.Gly694Ter) n.232G>T c.2377G>T (p.Gly793Ter) c.1966G>T (p.Gly656Ter) | |
| 5 | g.177097552G>A | CA3576780 | FGFR4 | c.2285G>A (p.Gly762Glu) c.2165G>A (p.Gly722Glu) c.2081G>A (p.Gly694Glu) n.233G>A c.2378G>A (p.Gly793Glu) c.1967G>A (p.Gly656Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177097552G>C | CA362299693 | FGFR4 | c.2285G>C (p.Gly762Ala) c.2165G>C (p.Gly722Ala) c.2081G>C (p.Gly694Ala) n.233G>C c.2378G>C (p.Gly793Ala) c.1967G>C (p.Gly656Ala) | dbSNP |