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.177097347A>C | CA362299381 | FGFR4 | c.2209A>C (p.Lys737Gln) c.2089A>C (p.Lys697Gln) c.2005A>C (p.Lys669Gln) n.157A>C c.2302A>C (p.Lys768Gln) c.1891A>C (p.Lys631Gln) | |
| 5 | g.177097347A>G | CA362299382 | FGFR4 | c.2209A>G (p.Lys737Glu) c.2089A>G (p.Lys697Glu) c.2005A>G (p.Lys669Glu) n.157A>G c.2302A>G (p.Lys768Glu) c.1891A>G (p.Lys631Glu) | gnomAD v4 |
| 5 | g.177097347A>T | CA362299384 | FGFR4 | c.2209A>T (p.Lys737Ter) c.2089A>T (p.Lys697Ter) c.2005A>T (p.Lys669Ter) n.157A>T c.2302A>T (p.Lys768Ter) c.1891A>T (p.Lys631Ter) | |
| 5 | g.177097348A>C | CA362299386 | FGFR4 | c.2210A>C (p.Lys737Thr) c.2090A>C (p.Lys697Thr) c.2006A>C (p.Lys669Thr) n.158A>C c.2303A>C (p.Lys768Thr) c.1892A>C (p.Lys631Thr) | |
| 5 | g.177097348A>G | CA362299387 | FGFR4 | c.2210A>G (p.Lys737Arg) c.2090A>G (p.Lys697Arg) c.2006A>G (p.Lys669Arg) n.158A>G c.2303A>G (p.Lys768Arg) c.1892A>G (p.Lys631Arg) | |
| 5 | g.177097348A>T | CA362299388 | FGFR4 | c.2210A>T (p.Lys737Met) c.2090A>T (p.Lys697Met) c.2006A>T (p.Lys669Met) n.158A>T c.2303A>T (p.Lys768Met) c.1892A>T (p.Lys631Met) | |
| 5 | g.177097349G>A | CA447958977 | FGFR4 | c.2211G>A (p.Lys737=) c.2091G>A (p.Lys697=) c.2007G>A (p.Lys669=) n.159G>A c.2304G>A (p.Lys768=) c.1893G>A (p.Lys631=) | gnomAD v4 |
| 5 | g.177097349G>C | CA362299390 | FGFR4 | c.2211G>C (p.Lys737Asn) c.2091G>C (p.Lys697Asn) c.2007G>C (p.Lys669Asn) n.159G>C c.2304G>C (p.Lys768Asn) c.1893G>C (p.Lys631Asn) | |
| 5 | g.177097349G>T | CA362299391 | FGFR4 | c.2211G>T (p.Lys737Asn) c.2091G>T (p.Lys697Asn) c.2007G>T (p.Lys669Asn) n.159G>T c.2304G>T (p.Lys768Asn) c.1893G>T (p.Lys631Asn) | |
| 5 | g.177097350C>A | CA362299393 | FGFR4 | c.2212C>A (p.Gln738Lys) c.2092C>A (p.Gln698Lys) c.2008C>A (p.Gln670Lys) n.160C>A c.2305C>A (p.Gln769Lys) c.1894C>A (p.Gln632Lys) | |
| 5 | g.177097350C>G | CA362299394 | FGFR4 | c.2212C>G (p.Gln738Glu) c.2092C>G (p.Gln698Glu) c.2008C>G (p.Gln670Glu) n.160C>G c.2305C>G (p.Gln769Glu) c.1894C>G (p.Gln632Glu) | |
| 5 | g.177097350C>T | CA362299395 | FGFR4 | c.2212C>T (p.Gln738Ter) c.2092C>T (p.Gln698Ter) c.2008C>T (p.Gln670Ter) n.160C>T c.2305C>T (p.Gln769Ter) c.1894C>T (p.Gln632Ter) | dbSNP |
| 5 | g.177097351A>C | CA362299400 | FGFR4 | c.2213A>C (p.Gln738Pro) c.2093A>C (p.Gln698Pro) c.2009A>C (p.Gln670Pro) n.161A>C c.2306A>C (p.Gln769Pro) c.1895A>C (p.Gln632Pro) | |
| 5 | g.177097351A>G | CA362299401 | FGFR4 | c.2213A>G (p.Gln738Arg) c.2093A>G (p.Gln698Arg) c.2009A>G (p.Gln670Arg) n.161A>G c.2306A>G (p.Gln769Arg) c.1895A>G (p.Gln632Arg) | |
| 5 | g.177097351A>T | CA362299398 | FGFR4 | c.2213A>T (p.Gln738Leu) c.2093A>T (p.Gln698Leu) c.2009A>T (p.Gln670Leu) n.161A>T c.2306A>T (p.Gln769Leu) c.1895A>T (p.Gln632Leu) | |
| 5 | g.177097352G>A | CA447958979 | FGFR4 | c.2214G>A (p.Gln738=) c.2094G>A (p.Gln698=) c.2010G>A (p.Gln670=) n.162G>A c.2307G>A (p.Gln769=) c.1896G>A (p.Gln632=) | |
| 5 | g.177097352G>C | CA362299402 | FGFR4 | c.2214G>C (p.Gln738His) c.2094G>C (p.Gln698His) c.2010G>C (p.Gln670His) n.162G>C c.2307G>C (p.Gln769His) c.1896G>C (p.Gln632His) | |
| 5 | g.177097352G>T | CA362299404 | FGFR4 | c.2214G>T (p.Gln738His) c.2094G>T (p.Gln698His) c.2010G>T (p.Gln670His) n.162G>T c.2307G>T (p.Gln769His) c.1896G>T (p.Gln632His) | gnomAD v4 |
| 5 | g.177097353C>A | CA362299406 | FGFR4 | c.2215C>A (p.Leu739Met) c.2095C>A (p.Leu699Met) c.2011C>A (p.Leu671Met) n.163C>A c.2308C>A (p.Leu770Met) c.1897C>A (p.Leu633Met) | gnomAD v4 |
| 5 | g.177097353C= | CA1603407195 | FGFR4 | c.2215C= (p.Leu739=) c.2095C= (p.Leu699=) c.2011C= (p.Leu671=) n.163C= c.2308C= (p.Leu770=) c.1897C= (p.Leu633=) | |
| 5 | g.177097353C>G | CA362299407 | FGFR4 | c.2215C>G (p.Leu739Val) c.2095C>G (p.Leu699Val) c.2011C>G (p.Leu671Val) n.163C>G c.2308C>G (p.Leu770Val) c.1897C>G (p.Leu633Val) | dbSNP |
| 5 | g.177097353C>T | CA447958984 | FGFR4 | c.2215C>T (p.Leu739=) c.2095C>T (p.Leu699=) c.2011C>T (p.Leu671=) n.163C>T c.2308C>T (p.Leu770=) c.1897C>T (p.Leu633=) | dbSNP |
| 5 | g.177097354T>A | CA362299408 | FGFR4 | c.2216T>A (p.Leu739Gln) c.2096T>A (p.Leu699Gln) c.2012T>A (p.Leu671Gln) n.164T>A c.2309T>A (p.Leu770Gln) c.1898T>A (p.Leu633Gln) | |
| 5 | g.177097354T>C | CA362299409 | FGFR4 | c.2216T>C (p.Leu739Pro) c.2096T>C (p.Leu699Pro) c.2012T>C (p.Leu671Pro) n.164T>C c.2309T>C (p.Leu770Pro) c.1898T>C (p.Leu633Pro) | |
| 5 | g.177097354T>G | CA362299410 | FGFR4 | c.2216T>G (p.Leu739Arg) c.2096T>G (p.Leu699Arg) c.2012T>G (p.Leu671Arg) n.164T>G c.2309T>G (p.Leu770Arg) c.1898T>G (p.Leu633Arg) | |
| 5 | g.177097355G>A | CA3576730 | FGFR4 | c.2217G>A (p.Leu739=) c.2097G>A (p.Leu699=) c.2013G>A (p.Leu671=) n.165G>A c.2310G>A (p.Leu770=) c.1899G>A (p.Leu633=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177097355G>C | CA447958989 | FGFR4 | c.2217G>C (p.Leu739=) c.2097G>C (p.Leu699=) c.2013G>C (p.Leu671=) n.165G>C c.2310G>C (p.Leu770=) c.1899G>C (p.Leu633=) | gnomAD v4 |
| 5 | g.177097355G= | CA1603407200 | FGFR4 | c.2217G= (p.Leu739=) c.2097G= (p.Leu699=) c.2013G= (p.Leu671=) n.165G= c.2310G= (p.Leu770=) c.1899G= (p.Leu633=) | |
| 5 | g.177097355G>T | CA447958991 | FGFR4 | c.2217G>T (p.Leu739=) c.2097G>T (p.Leu699=) c.2013G>T (p.Leu671=) n.165G>T c.2310G>T (p.Leu770=) c.1899G>T (p.Leu633=) | gnomAD v4 |
| 5 | g.177097356G>A | CA362299415 | FGFR4 | c.2218G>A (p.Val740Met) c.2098G>A (p.Val700Met) c.2014G>A (p.Val672Met) n.166G>A c.2311G>A (p.Val771Met) c.1900G>A (p.Val634Met) | |
| 5 | g.177097356G>C | CA362299413 | FGFR4 | c.2218G>C (p.Val740Leu) c.2098G>C (p.Val700Leu) c.2014G>C (p.Val672Leu) n.166G>C c.2311G>C (p.Val771Leu) c.1900G>C (p.Val634Leu) | |
| 5 | g.177097356G>T | CA362299412 | FGFR4 | c.2218G>T (p.Val740Leu) c.2098G>T (p.Val700Leu) c.2014G>T (p.Val672Leu) n.166G>T c.2311G>T (p.Val771Leu) c.1900G>T (p.Val634Leu) | |
| 5 | g.177097357T>A | CA362299417 | FGFR4 | c.2219T>A (p.Val740Glu) c.2099T>A (p.Val700Glu) c.2015T>A (p.Val672Glu) n.167T>A c.2312T>A (p.Val771Glu) c.1901T>A (p.Val634Glu) | |
| 5 | g.177097357T>C | CA362299418 | FGFR4 | c.2219T>C (p.Val740Ala) c.2099T>C (p.Val700Ala) c.2015T>C (p.Val672Ala) n.167T>C c.2312T>C (p.Val771Ala) c.1901T>C (p.Val634Ala) | |
| 5 | g.177097357T>G | CA362299420 | FGFR4 | c.2219T>G (p.Val740Gly) c.2099T>G (p.Val700Gly) c.2015T>G (p.Val672Gly) n.167T>G c.2312T>G (p.Val771Gly) c.1901T>G (p.Val634Gly) | |
| 5 | g.177097358G>A | CA447958998 | FGFR4 | c.2220G>A (p.Val740=) c.2100G>A (p.Val700=) c.2016G>A (p.Val672=) n.168G>A c.2313G>A (p.Val771=) c.1902G>A (p.Val634=) | gnomAD v4 |
| 5 | g.177097358G>C | CA447958999 | FGFR4 | c.2220G>C (p.Val740=) c.2100G>C (p.Val700=) c.2016G>C (p.Val672=) n.168G>C c.2313G>C (p.Val771=) c.1902G>C (p.Val634=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177097358G= | CA1603407203 | FGFR4 | c.2220G= (p.Val740=) c.2100G= (p.Val700=) c.2016G= (p.Val672=) n.168G= c.2313G= (p.Val771=) c.1902G= (p.Val634=) | |
| 5 | g.177097358G>T | CA447959000 | FGFR4 | c.2220G>T (p.Val740=) c.2100G>T (p.Val700=) c.2016G>T (p.Val672=) n.168G>T c.2313G>T (p.Val771=) c.1902G>T (p.Val634=) | |
| 5 | g.177097359del | CA447959001 | FGFR4 | c.2221del (p.Glu741ArgfsTer19) c.2101del (p.Glu701ArgfsTer19) c.2017del (p.Glu673ArgfsTer19) n.169del c.2314del (p.Glu772ArgfsTer19) c.1903del (p.Glu635ArgfsTer19) | dbSNP COSMIC COSMIC |
| 5 | g.177097359G>A | CA362299422 | FGFR4 | c.2221G>A (p.Glu741Lys) c.2101G>A (p.Glu701Lys) c.2017G>A (p.Glu673Lys) n.169G>A c.2314G>A (p.Glu772Lys) c.1903G>A (p.Glu635Lys) | |
| 5 | g.177097359G>C | CA362299423 | FGFR4 | c.2221G>C (p.Glu741Gln) c.2101G>C (p.Glu701Gln) c.2017G>C (p.Glu673Gln) n.169G>C c.2314G>C (p.Glu772Gln) c.1903G>C (p.Glu635Gln) | |
| 5 | g.177097359G>T | CA362299425 | FGFR4 | c.2221G>T (p.Glu741Ter) c.2101G>T (p.Glu701Ter) c.2017G>T (p.Glu673Ter) n.169G>T c.2314G>T (p.Glu772Ter) c.1903G>T (p.Glu635Ter) | |
| 5 | g.177097360A= | CA1603407205 | FGFR4 | c.2222A= (p.Glu741=) c.2102A= (p.Glu701=) c.2018A= (p.Glu673=) n.170A= c.2315A= (p.Glu772=) c.1904A= (p.Glu635=) | |
| 5 | g.177097360A>C | CA362299427 | FGFR4 | c.2222A>C (p.Glu741Ala) c.2102A>C (p.Glu701Ala) c.2018A>C (p.Glu673Ala) n.170A>C c.2315A>C (p.Glu772Ala) c.1904A>C (p.Glu635Ala) | |
| 5 | g.177097360A>G | CA362299430 | FGFR4 | c.2222A>G (p.Glu741Gly) c.2102A>G (p.Glu701Gly) c.2018A>G (p.Glu673Gly) n.170A>G c.2315A>G (p.Glu772Gly) c.1904A>G (p.Glu635Gly) | dbSNP gnomAD v4 |
| 5 | g.177097360A>T | CA362299429 | FGFR4 | c.2222A>T (p.Glu741Val) c.2102A>T (p.Glu701Val) c.2018A>T (p.Glu673Val) n.170A>T c.2315A>T (p.Glu772Val) c.1904A>T (p.Glu635Val) | |
| 5 | g.177097361G>A | CA447959007 | FGFR4 | c.2223G>A (p.Glu741=) c.2103G>A (p.Glu701=) c.2019G>A (p.Glu673=) n.171G>A c.2316G>A (p.Glu772=) c.1905G>A (p.Glu635=) | |
| 5 | g.177097361G>C | CA362299432 | FGFR4 | c.2223G>C (p.Glu741Asp) c.2103G>C (p.Glu701Asp) c.2019G>C (p.Glu673Asp) n.171G>C c.2316G>C (p.Glu772Asp) c.1905G>C (p.Glu635Asp) | |
| 5 | g.177097361G>T | CA362299434 | FGFR4 | c.2223G>T (p.Glu741Asp) c.2103G>T (p.Glu701Asp) c.2019G>T (p.Glu673Asp) n.171G>T c.2316G>T (p.Glu772Asp) c.1905G>T (p.Glu635Asp) |