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 |
|---|---|---|---|---|---|
| 17 | g.7455354A= | CA2245822293 | CHRNB1 | c.1115A= (p.Glu372=) c.899A= (p.Glu300=) c.778A= n.2059A= c.752A= (p.Glu251=) | |
| 17 | g.7455354A>C | CA397800750 | CHRNB1 | c.1115A>C (p.Glu372Ala) c.899A>C (p.Glu300Ala) c.778A>C n.2059A>C c.752A>C (p.Glu251Ala) | gnomAD v4 |
| 17 | g.7455354A>G | CA397800755 | CHRNB1 | c.1115A>G (p.Glu372Gly) c.899A>G (p.Glu300Gly) c.778A>G n.2059A>G c.752A>G (p.Glu251Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7455354A>T | CA397800758 | CHRNB1 | c.1115A>T (p.Glu372Val) c.899A>T (p.Glu300Val) c.778A>T n.2059A>T c.752A>T (p.Glu251Val) | |
| 17 | g.7455355G>A | CA8347983 | CHRNB1 | c.1116G>A (p.Glu372=) c.900G>A (p.Glu300=) c.779G>A n.2060G>A c.753G>A (p.Glu251=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.7455355G>C | CA397800765 | CHRNB1 | c.1116G>C (p.Glu372Asp) c.900G>C (p.Glu300Asp) c.779G>C n.2060G>C c.753G>C (p.Glu251Asp) | |
| 17 | g.7455355G= | CA2245822294 | CHRNB1 | c.1116G= (p.Glu372=) c.900G= (p.Glu300=) c.779G= n.2060G= c.753G= (p.Glu251=) | |
| 17 | g.7455355G>T | CA397800762 | CHRNB1 | c.1116G>T (p.Glu372Asp) c.900G>T (p.Glu300Asp) c.779G>T n.2060G>T c.753G>T (p.Glu251Asp) | |
| 17 | g.7455356C>A | CA8347984 | CHRNB1 | c.1117C>A (p.Pro373Thr) c.901C>A (p.Pro301Thr) c.780C>A n.2061C>A c.754C>A (p.Pro252Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.7455356C= | CA2245822295 | CHRNB1 | c.1117C= (p.Pro373=) c.901C= (p.Pro301=) c.780C= n.2061C= c.754C= (p.Pro252=) | |
| 17 | g.7455356C>G | CA397800766 | CHRNB1 | c.1117C>G (p.Pro373Ala) c.901C>G (p.Pro301Ala) c.780C>G n.2061C>G c.754C>G (p.Pro252Ala) | dbSNP |
| 17 | g.7455356C>T | CA397800769 | CHRNB1 | c.1117C>T (p.Pro373Ser) c.901C>T (p.Pro301Ser) c.780C>T n.2061C>T c.754C>T (p.Pro252Ser) | |
| 17 | g.7455360dup | CA2576152339 | CHRNB1 | c.1121dup (p.His375SerfsTer15) c.905dup (p.His303SerfsTer15) c.784dup n.2065dup c.758dup (p.His254SerfsTer15) | |
| 17 | g.7455360del | CA2635846469 | CHRNB1 | c.1121del (p.Pro374LeufsTer?) c.905del (p.Pro302LeufsTer?) c.784del n.2065del c.758del (p.Pro253LeufsTer?) | gnomAD v4 |
| 17 | g.7455357C>A | CA397800778 | CHRNB1 | c.1118C>A (p.Pro373His) c.902C>A (p.Pro301His) c.781C>A n.2062C>A c.755C>A (p.Pro252His) | |
| 17 | g.7455357C= | CA2245822296 | CHRNB1 | c.1118C= (p.Pro373=) c.902C= (p.Pro301=) c.781C= n.2062C= c.755C= (p.Pro252=) | |
| 17 | g.7455357C>G | CA397800779 | CHRNB1 | c.1118C>G (p.Pro373Arg) c.902C>G (p.Pro301Arg) c.781C>G n.2062C>G c.755C>G (p.Pro252Arg) | |
| 17 | g.7455357C>T | CA287432057 | CHRNB1 | c.1118C>T (p.Pro373Leu) c.902C>T (p.Pro301Leu) c.781C>T n.2062C>T c.755C>T (p.Pro252Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7455358C>A | CA497744779 | CHRNB1 | c.1119C>A (p.Pro373=) c.903C>A (p.Pro301=) c.782C>A n.2063C>A c.756C>A (p.Pro252=) | |
| 17 | g.7455358C>G | CA497744780 | CHRNB1 | c.1119C>G (p.Pro373=) c.903C>G (p.Pro301=) c.782C>G n.2063C>G c.756C>G (p.Pro252=) | |
| 17 | g.7455358C>T | CA497744781 | CHRNB1 | c.1119C>T (p.Pro373=) c.903C>T (p.Pro301=) c.782C>T n.2063C>T c.756C>T (p.Pro252=) | gnomAD v4 |
| 17 | g.7455359C>A | CA397800781 | CHRNB1 | c.1120C>A (p.Pro374Thr) c.904C>A (p.Pro302Thr) c.783C>A n.2064C>A c.757C>A (p.Pro253Thr) | |
| 17 | g.7455359C>G | CA397800782 | CHRNB1 | c.1120C>G (p.Pro374Ala) c.904C>G (p.Pro302Ala) c.783C>G n.2064C>G c.757C>G (p.Pro253Ala) | |
| 17 | g.7455359C>T | CA397800785 | CHRNB1 | c.1120C>T (p.Pro374Ser) c.904C>T (p.Pro302Ser) c.783C>T n.2064C>T c.757C>T (p.Pro253Ser) | |
| 17 | g.7455360C>A | CA397800798 | CHRNB1 | c.1121C>A (p.Pro374His) c.905C>A (p.Pro302His) c.784C>A n.2065C>A c.758C>A (p.Pro253His) | |
| 17 | g.7455360C>G | CA397800801 | CHRNB1 | c.1121C>G (p.Pro374Arg) c.905C>G (p.Pro302Arg) c.784C>G n.2065C>G c.758C>G (p.Pro253Arg) | gnomAD v4 |
| 17 | g.7455360C>T | CA397800822 | CHRNB1 | c.1121C>T (p.Pro374Leu) c.905C>T (p.Pro302Leu) c.784C>T n.2065C>T c.758C>T (p.Pro253Leu) | |
| 17 | g.7455361T>A | CA497744782 | CHRNB1 | c.1122T>A (p.Pro374=) c.906T>A (p.Pro302=) c.785T>A n.2066T>A c.759T>A (p.Pro253=) | dbSNP |
| 17 | g.7455361T>C | CA497744783 | CHRNB1 | c.1122T>C (p.Pro374=) c.906T>C (p.Pro302=) c.785T>C n.2066T>C c.759T>C (p.Pro253=) | |
| 17 | g.7455361T>G | CA497744784 | CHRNB1 | c.1122T>G (p.Pro374=) c.906T>G (p.Pro302=) c.785T>G n.2066T>G c.759T>G (p.Pro253=) | |
| 17 | g.7455361T= | CA2245822297 | CHRNB1 | c.1122T= (p.Pro374=) c.906T= (p.Pro302=) c.785T= n.2066T= c.759T= (p.Pro253=) | |
| 17 | g.7455362C>A | CA397800829 | CHRNB1 | c.1123C>A (p.His375Asn) c.907C>A (p.His303Asn) c.786C>A n.2067C>A c.760C>A (p.His254Asn) | |
| 17 | g.7455362C= | CA2245822298 | CHRNB1 | c.1123C= (p.His375=) c.907C= (p.His303=) c.786C= n.2067C= c.760C= (p.His254=) | |
| 17 | g.7455362C>G | CA397800836 | CHRNB1 | c.1123C>G (p.His375Asp) c.907C>G (p.His303Asp) c.786C>G n.2067C>G c.760C>G (p.His254Asp) | |
| 17 | g.7455362C>T | CA287432072 | CHRNB1 | c.1123C>T (p.His375Tyr) c.907C>T (p.His303Tyr) c.786C>T n.2067C>T c.760C>T (p.His254Tyr) | dbSNP |
| 17 | g.7455363A>C | CA397800839 | CHRNB1 | c.1124A>C (p.His375Pro) c.908A>C (p.His303Pro) c.787A>C n.2068A>C c.761A>C (p.His254Pro) | |
| 17 | g.7455363A>G | CA397800840 | CHRNB1 | c.1124A>G (p.His375Arg) c.908A>G (p.His303Arg) c.787A>G n.2068A>G c.761A>G (p.His254Arg) | gnomAD v4 |
| 17 | g.7455363A>T | CA397800841 | CHRNB1 | c.1124A>T (p.His375Leu) c.908A>T (p.His303Leu) c.787A>T n.2068A>T c.761A>T (p.His254Leu) | |
| 17 | g.7455364C>A | CA397800843 | CHRNB1 | c.1125C>A (p.His375Gln) c.909C>A (p.His303Gln) c.788C>A n.2069C>A c.762C>A (p.His254Gln) | |
| 17 | g.7455364C>G | CA397800847 | CHRNB1 | c.1125C>G (p.His375Gln) c.909C>G (p.His303Gln) c.788C>G n.2069C>G c.762C>G (p.His254Gln) | |
| 17 | g.7455364C>T | CA497744785 | CHRNB1 | c.1125C>T (p.His375=) c.909C>T (p.His303=) c.788C>T n.2069C>T c.762C>T (p.His254=) | |
| 17 | g.7455365T>A | CA397800866 | CHRNB1 | c.1126T>A (p.Cys376Ser) c.910T>A (p.Cys304Ser) c.789T>A n.2070T>A c.763T>A (p.Cys255Ser) | |
| 17 | g.7455365T>C | CA8347985 | CHRNB1 | c.1126T>C (p.Cys376Arg) c.910T>C (p.Cys304Arg) c.789T>C n.2070T>C c.763T>C (p.Cys255Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7455365T>G | CA397800856 | CHRNB1 | c.1126T>G (p.Cys376Gly) c.910T>G (p.Cys304Gly) c.789T>G n.2070T>G c.763T>G (p.Cys255Gly) | |
| 17 | g.7455365T= | CA2245822299 | CHRNB1 | c.1126T= (p.Cys376=) c.910T= (p.Cys304=) c.789T= n.2070T= c.763T= (p.Cys255=) | |
| 17 | g.7455366G>A | CA397800870 | CHRNB1 | c.1127G>A (p.Cys376Tyr) c.911G>A (p.Cys304Tyr) c.790G>A n.2071G>A c.764G>A (p.Cys255Tyr) | |
| 17 | g.7455366G>C | CA397800876 | CHRNB1 | c.1127G>C (p.Cys376Ser) c.911G>C (p.Cys304Ser) c.790G>C n.2071G>C c.764G>C (p.Cys255Ser) | gnomAD v4 |
| 17 | g.7455366G>T | CA397800878 | CHRNB1 | c.1127G>T (p.Cys376Phe) c.911G>T (p.Cys304Phe) c.790G>T n.2071G>T c.764G>T (p.Cys255Phe) | |
| 17 | g.7455366_7455369delinsGTTC | CA2245822300 | CHRNB1 | c.1127_1130delinsGTTC (p.Cys376=) c.911_914delinsGTTC (p.Cys304=) c.790_793delinsGTTC n.2071_2074delinsGTTC c.764_767delinsGTTC (p.Cys255=) | |
| 17 | g.7455367T>A | CA397800881 | CHRNB1 | c.1128T>A (p.Cys376Ter) c.912T>A (p.Cys304Ter) c.791T>A n.2072T>A c.765T>A (p.Cys255Ter) |