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.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 |
| 5 | g.177097552G= | CA1603407752 | FGFR4 | c.2285G= (p.Gly762=) c.2165G= (p.Gly722=) c.2081G= (p.Gly694=) n.233G= c.2378G= (p.Gly793=) c.1967G= (p.Gly656=) | |
| 5 | g.177097552G>T | CA3576779 | FGFR4 | c.2285G>T (p.Gly762Val) c.2165G>T (p.Gly722Val) c.2081G>T (p.Gly694Val) n.233G>T c.2378G>T (p.Gly793Val) c.1967G>T (p.Gly656Val) | dbSNP ExAC gnomAD v2 |
| 5 | g.177097553A>C | CA447959168 | FGFR4 | c.2286A>C (p.Gly762=) c.2166A>C (p.Gly722=) c.2082A>C (p.Gly694=) n.234A>C c.2379A>C (p.Gly793=) c.1968A>C (p.Gly656=) | |
| 5 | g.177097553A>G | CA447959170 | FGFR4 | c.2286A>G (p.Gly762=) c.2166A>G (p.Gly722=) c.2082A>G (p.Gly694=) n.234A>G c.2379A>G (p.Gly793=) c.1968A>G (p.Gly656=) | |
| 5 | g.177097553A>T | CA447959169 | FGFR4 | c.2286A>T (p.Gly762=) c.2166A>T (p.Gly722=) c.2082A>T (p.Gly694=) n.234A>T c.2379A>T (p.Gly793=) c.1968A>T (p.Gly656=) | |
| 5 | g.177097554C>A | CA362299696 | FGFR4 | c.2287C>A (p.Pro763Thr) c.2167C>A (p.Pro723Thr) c.2083C>A (p.Pro695Thr) n.235C>A c.2380C>A (p.Pro794Thr) c.1969C>A (p.Pro657Thr) | |
| 5 | g.177097554C>G | CA362299697 | FGFR4 | c.2287C>G (p.Pro763Ala) c.2167C>G (p.Pro723Ala) c.2083C>G (p.Pro695Ala) n.235C>G c.2380C>G (p.Pro794Ala) c.1969C>G (p.Pro657Ala) | |
| 5 | g.177097554C>T | CA362299698 | FGFR4 | c.2287C>T (p.Pro763Ser) c.2167C>T (p.Pro723Ser) c.2083C>T (p.Pro695Ser) n.235C>T c.2380C>T (p.Pro794Ser) c.1969C>T (p.Pro657Ser) | |
| 5 | g.177097555C>A | CA362299700 | FGFR4 | c.2288C>A (p.Pro763His) c.2168C>A (p.Pro723His) c.2084C>A (p.Pro695His) n.236C>A c.2381C>A (p.Pro794His) c.1970C>A (p.Pro657His) | |
| 5 | g.177097555C= | CA1603407761 | FGFR4 | c.2288C= (p.Pro763=) c.2168C= (p.Pro723=) c.2084C= (p.Pro695=) n.236C= c.2381C= (p.Pro794=) c.1970C= (p.Pro657=) | |
| 5 | g.177097555C>G | CA362299702 | FGFR4 | c.2288C>G (p.Pro763Arg) c.2168C>G (p.Pro723Arg) c.2084C>G (p.Pro695Arg) n.236C>G c.2381C>G (p.Pro794Arg) c.1970C>G (p.Pro657Arg) | COSMIC COSMIC |
| 5 | g.177097555C>T | CA3576781 | FGFR4 | c.2288C>T (p.Pro763Leu) c.2168C>T (p.Pro723Leu) c.2084C>T (p.Pro695Leu) n.236C>T c.2381C>T (p.Pro794Leu) c.1970C>T (p.Pro657Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177097556C>A | CA447959173 | FGFR4 | c.2289C>A (p.Pro763=) c.2169C>A (p.Pro723=) c.2085C>A (p.Pro695=) n.237C>A c.2382C>A (p.Pro794=) c.1971C>A (p.Pro657=) | |
| 5 | g.177097556C= | CA1603407766 | FGFR4 | c.2289C= (p.Pro763=) c.2169C= (p.Pro723=) c.2085C= (p.Pro695=) n.237C= c.2382C= (p.Pro794=) c.1971C= (p.Pro657=) | |
| 5 | g.177097556C>G | CA447959174 | FGFR4 | c.2289C>G (p.Pro763=) c.2169C>G (p.Pro723=) c.2085C>G (p.Pro695=) n.237C>G c.2382C>G (p.Pro794=) c.1971C>G (p.Pro657=) | |
| 5 | g.177097556C>T | CA3576782 | FGFR4 | c.2289C>T (p.Pro763=) c.2169C>T (p.Pro723=) c.2085C>T (p.Pro695=) n.237C>T c.2382C>T (p.Pro794=) c.1971C>T (p.Pro657=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177097557T>A | CA362299705 | FGFR4 | c.2290T>A (p.Tyr764Asn) c.2170T>A (p.Tyr724Asn) c.2086T>A (p.Tyr696Asn) n.238T>A c.2383T>A (p.Tyr795Asn) c.1972T>A (p.Tyr658Asn) | |
| 5 | g.177097557T>C | CA362299708 | FGFR4 | c.2290T>C (p.Tyr764His) c.2170T>C (p.Tyr724His) c.2086T>C (p.Tyr696His) n.238T>C c.2383T>C (p.Tyr795His) c.1972T>C (p.Tyr658His) | |
| 5 | g.177097557T>G | CA362299706 | FGFR4 | c.2290T>G (p.Tyr764Asp) c.2170T>G (p.Tyr724Asp) c.2086T>G (p.Tyr696Asp) n.238T>G c.2383T>G (p.Tyr795Asp) c.1972T>G (p.Tyr658Asp) | |
| 5 | g.177097558A>C | CA362299710 | FGFR4 | c.2291A>C (p.Tyr764Ser) c.2171A>C (p.Tyr724Ser) c.2087A>C (p.Tyr696Ser) n.239A>C c.2384A>C (p.Tyr795Ser) c.1973A>C (p.Tyr658Ser) | |
| 5 | g.177097558A>G | CA362299711 | FGFR4 | c.2291A>G (p.Tyr764Cys) c.2171A>G (p.Tyr724Cys) c.2087A>G (p.Tyr696Cys) n.239A>G c.2384A>G (p.Tyr795Cys) c.1973A>G (p.Tyr658Cys) | |
| 5 | g.177097558A>T | CA362299712 | FGFR4 | c.2291A>T (p.Tyr764Phe) c.2171A>T (p.Tyr724Phe) c.2087A>T (p.Tyr696Phe) n.239A>T c.2384A>T (p.Tyr795Phe) c.1973A>T (p.Tyr658Phe) | |
| 5 | g.177097559T>A | CA362299715 | FGFR4 | c.2292T>A (p.Tyr764Ter) c.2172T>A (p.Tyr724Ter) c.2088T>A (p.Tyr696Ter) n.240T>A c.2385T>A (p.Tyr795Ter) c.1974T>A (p.Tyr658Ter) | |
| 5 | g.177097559T>C | CA447959178 | FGFR4 | c.2292T>C (p.Tyr764=) c.2172T>C (p.Tyr724=) c.2088T>C (p.Tyr696=) n.240T>C c.2385T>C (p.Tyr795=) c.1974T>C (p.Tyr658=) | dbSNP |
| 5 | g.177097559T>G | CA362299717 | FGFR4 | c.2292T>G (p.Tyr764Ter) c.2172T>G (p.Tyr724Ter) c.2088T>G (p.Tyr696Ter) n.240T>G c.2385T>G (p.Tyr795Ter) c.1974T>G (p.Tyr658Ter) |