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.7455342_7455349del | CA2635846465 | CHRNB1 | c.1103_1110del (p.Asp368AlafsTer19) c.887_894del (p.Asp296AlafsTer19) c.766_773del n.2047_2054del c.740_747del (p.Asp247AlafsTer19) | gnomAD v4 |
| 17 | g.7455346G>A | CA497744773 | CHRNB1 | c.1107G>A (p.Leu369=) c.891G>A (p.Leu297=) c.770G>A n.2051G>A c.744G>A (p.Leu248=) | |
| 17 | g.7455346G>C | CA497744774 | CHRNB1 | c.1107G>C (p.Leu369=) c.891G>C (p.Leu297=) c.770G>C n.2051G>C c.744G>C (p.Leu248=) | |
| 17 | g.7455346G>T | CA497744775 | CHRNB1 | c.1107G>T (p.Leu369=) c.891G>T (p.Leu297=) c.770G>T n.2051G>T c.744G>T (p.Leu248=) | |
| 17 | g.7455347A= | CA2245822288 | CHRNB1 | c.1108A= (p.Met370=) c.892A= (p.Met298=) c.771A= n.2052A= c.745A= (p.Met249=) | |
| 17 | g.7455347A>C | CA397800685 | CHRNB1 | c.1108A>C (p.Met370Leu) c.892A>C (p.Met298Leu) c.771A>C n.2052A>C c.745A>C (p.Met249Leu) | |
| 17 | g.7455347A>G | CA397800687 | CHRNB1 | c.1108A>G (p.Met370Val) c.892A>G (p.Met298Val) c.771A>G n.2052A>G c.745A>G (p.Met249Val) | |
| 17 | g.7455347A>T | CA397800690 | CHRNB1 | c.1108A>T (p.Met370Leu) c.892A>T (p.Met298Leu) c.771A>T n.2052A>T c.745A>T (p.Met249Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.7455348T>A | CA397800693 | CHRNB1 | c.1109T>A (p.Met370Lys) c.893T>A (p.Met298Lys) c.772T>A n.2053T>A c.746T>A (p.Met249Lys) | |
| 17 | g.7455348T>C | CA397800702 | CHRNB1 | c.1109T>C (p.Met370Thr) c.893T>C (p.Met298Thr) c.772T>C n.2053T>C c.746T>C (p.Met249Thr) | |
| 17 | g.7455348T>G | CA397800706 | CHRNB1 | c.1109T>G (p.Met370Arg) c.893T>G (p.Met298Arg) c.772T>G n.2053T>G c.746T>G (p.Met249Arg) | |
| 17 | g.7455349G>A | CA8347980 | CHRNB1 | c.1110G>A (p.Met370Ile) c.894G>A (p.Met298Ile) c.773G>A n.2054G>A c.747G>A (p.Met249Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.7455349G>C | CA397800718 | CHRNB1 | c.1110G>C (p.Met370Ile) c.894G>C (p.Met298Ile) c.773G>C n.2054G>C c.747G>C (p.Met249Ile) | |
| 17 | g.7455349G= | CA2245822289 | CHRNB1 | c.1110G= (p.Met370=) c.894G= (p.Met298=) c.773G= n.2054G= c.747G= (p.Met249=) | |
| 17 | g.7455349G>T | CA397800719 | CHRNB1 | c.1110G>T (p.Met370Ile) c.894G>T (p.Met298Ile) c.773G>T n.2054G>T c.747G>T (p.Met249Ile) | |
| 17 | g.7455350C>A | CA397800720 | CHRNB1 | c.1111C>A (p.Pro371Thr) c.895C>A (p.Pro299Thr) c.774C>A n.2055C>A c.748C>A (p.Pro250Thr) | |
| 17 | g.7455350C>G | CA397800721 | CHRNB1 | c.1111C>G (p.Pro371Ala) c.895C>G (p.Pro299Ala) c.774C>G n.2055C>G c.748C>G (p.Pro250Ala) | |
| 17 | g.7455350C>T | CA397800725 | CHRNB1 | c.1111C>T (p.Pro371Ser) c.895C>T (p.Pro299Ser) c.774C>T n.2055C>T c.748C>T (p.Pro250Ser) | |
| 17 | g.7455351C>A | CA397800729 | CHRNB1 | c.1112C>A (p.Pro371Gln) c.896C>A (p.Pro299Gln) c.775C>A n.2056C>A c.749C>A (p.Pro250Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.7455351C= | CA2245822290 | CHRNB1 | c.1112C= (p.Pro371=) c.896C= (p.Pro299=) c.775C= n.2056C= c.749C= (p.Pro250=) | |
| 17 | g.7455351C>G | CA397800743 | CHRNB1 | c.1112C>G (p.Pro371Arg) c.896C>G (p.Pro299Arg) c.775C>G n.2056C>G c.749C>G (p.Pro250Arg) | |
| 17 | g.7455351C>T | CA8347981 | CHRNB1 | c.1112C>T (p.Pro371Leu) c.896C>T (p.Pro299Leu) c.775C>T n.2056C>T c.749C>T (p.Pro250Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7455352G>A | CA497744776 | CHRNB1 | c.1113G>A (p.Pro371=) c.897G>A (p.Pro299=) c.776G>A n.2057G>A c.750G>A (p.Pro250=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.7455352G>C | CA497744777 | CHRNB1 | c.1113G>C (p.Pro371=) c.897G>C (p.Pro299=) c.776G>C n.2057G>C c.750G>C (p.Pro250=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7455352G= | CA2245822291 | CHRNB1 | c.1113G= (p.Pro371=) c.897G= (p.Pro299=) c.776G= n.2057G= c.750G= (p.Pro250=) | |
| 17 | g.7455352G>T | CA497744778 | CHRNB1 | c.1113G>T (p.Pro371=) c.897G>T (p.Pro299=) c.776G>T n.2057G>T c.750G>T (p.Pro250=) | |
| 17 | g.7455353G>A | CA8347982 | CHRNB1 | c.1114G>A (p.Glu372Lys) c.898G>A (p.Glu300Lys) c.777G>A n.2058G>A c.751G>A (p.Glu251Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7455353G>C | CA397800748 | CHRNB1 | c.1114G>C (p.Glu372Gln) c.898G>C (p.Glu300Gln) c.777G>C n.2058G>C c.751G>C (p.Glu251Gln) | COSMIC |
| 17 | g.7455353G= | CA2245822292 | CHRNB1 | c.1114G= (p.Glu372=) c.898G= (p.Glu300=) c.777G= n.2058G= c.751G= (p.Glu251=) | |
| 17 | g.7455353G>T | CA397800749 | CHRNB1 | c.1114G>T (p.Glu372Ter) c.898G>T (p.Glu300Ter) c.777G>T n.2058G>T c.751G>T (p.Glu251Ter) | |
| 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=) |