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 |
|---|---|---|---|---|---|
| 11 | g.2570649_2570651del | CA007239 | KCNQ1 | c.238_240del (p.Phe80del) c.478-12786_478-12784del (n.478-12786_478-12784del) c.499_501del (p.Phe167del) c.118_120del (p.Phe40del) c.124-12786_124-12784del (n.124-12786_124-12784del) | ClinVar dbSNP |
| 11 | g.2570649T>A | CA379129832 | KCNQ1 | c.238T>A (p.Phe80Ile) c.478-12786T>A (n.478-12786T>A) c.499T>A (p.Phe167Ile) c.118T>A (p.Phe40Ile) c.124-12786T>A (n.124-12786T>A) | |
| 11 | g.2570649T>C | CA379129833 | KCNQ1 | c.238T>C (p.Phe80Leu) c.478-12786T>C (n.478-12786T>C) c.499T>C (p.Phe167Leu) c.118T>C (p.Phe40Leu) c.124-12786T>C (n.124-12786T>C) | |
| 11 | g.2570649T>G | CA379129834 | KCNQ1 | c.238T>G (p.Phe80Val) c.478-12786T>G (n.478-12786T>G) c.499T>G (p.Phe167Val) c.118T>G (p.Phe40Val) c.124-12786T>G (n.124-12786T>G) | |
| 11 | g.2570649_2570652delinsTTCG | CA1948239447 | KCNQ1 | c.238_241delinsTTCG (p.Phe80=) c.478-12786_478-12783delinsTTCG (n.478-12786_478-12783delinsTTCG) c.499_502delinsTTCG (p.Phe167=) c.118_121delinsTTCG (p.Phe40=) c.124-12786_124-12783delinsTTCG (n.124-12786_124-12783delinsTTCG) | |
| 11 | g.2570650T>A | CA379129835 | KCNQ1 | c.239T>A (p.Phe80Tyr) c.478-12785T>A (n.478-12785T>A) c.500T>A (p.Phe167Tyr) c.119T>A (p.Phe40Tyr) c.124-12785T>A (n.124-12785T>A) | gnomAD v4 |
| 11 | g.2570650T>C | CA379129836 | KCNQ1 | c.239T>C (p.Phe80Ser) c.478-12785T>C (n.478-12785T>C) c.500T>C (p.Phe167Ser) c.119T>C (p.Phe40Ser) c.124-12785T>C (n.124-12785T>C) | gnomAD v4 |
| 11 | g.2570650T>G | CA379129837 | KCNQ1 | c.239T>G (p.Phe80Cys) c.478-12785T>G (n.478-12785T>G) c.500T>G (p.Phe167Cys) c.119T>G (p.Phe40Cys) c.124-12785T>G (n.124-12785T>G) | |
| 11 | g.2570650_2570652del | CA007247 | KCNQ1 | c.239_241del (p.Phe80_Gly81delinsTrp) c.478-12785_478-12783del (n.478-12785_478-12783del) c.500_502del (p.Phe167_Gly168delinsTrp) c.119_121del (p.Phe40_Gly41delinsTrp) c.124-12785_124-12783del (n.124-12785_124-12783del) | ClinVar dbSNP |
| 11 | g.2570651C>A | CA379129838 | KCNQ1 | c.240C>A (p.Phe80Leu) c.478-12784C>A (n.478-12784C>A) c.501C>A (p.Phe167Leu) c.120C>A (p.Phe40Leu) c.124-12784C>A (n.124-12784C>A) | |
| 11 | g.2570651C= | CA1948239465 | KCNQ1 | c.240C= (p.Phe80=) c.478-12784C= (n.478-12784C=) c.501C= (p.Phe167=) c.120C= (p.Phe40=) c.124-12784C= (n.124-12784C=) | |
| 11 | g.2570651C>G | CA379129839 | KCNQ1 | c.240C>G (p.Phe80Leu) c.478-12784C>G (n.478-12784C>G) c.501C>G (p.Phe167Leu) c.120C>G (p.Phe40Leu) c.124-12784C>G (n.124-12784C>G) | |
| 11 | g.2570651C>T | CA038037 | KCNQ1 | c.240C>T (p.Phe80=) c.478-12784C>T (n.478-12784C>T) c.501C>T (p.Phe167=) c.120C>T (p.Phe40=) c.124-12784C>T (n.124-12784C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.2570651_2570652delinsCG | CA1948239469 | KCNQ1 | c.240_241delinsCG (p.Phe80=) c.478-12784_478-12783delinsCG (n.478-12784_478-12783delinsCG) c.501_502delinsCG (p.Phe167=) c.120_121delinsCG (p.Phe40=) c.124-12784_124-12783delinsCG (n.124-12784_124-12783delinsCG) | |
| 11 | g.2570652G>A | CA007263 | KCNQ1 | c.241G>A (p.Gly81Arg) c.478-12783G>A (n.478-12783G>A) c.502G>A (p.Gly168Arg) c.121G>A (p.Gly41Arg) c.124-12783G>A (n.124-12783G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570652G>C | CA007272 | KCNQ1 | c.241G>C (p.Gly81Arg) c.478-12783G>C (n.478-12783G>C) c.502G>C (p.Gly168Arg) c.121G>C (p.Gly41Arg) c.124-12783G>C (n.124-12783G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2570652G= | CA1948239488 | KCNQ1 | c.241G= (p.Gly81=) c.478-12783G= (n.478-12783G=) c.502G= (p.Gly168=) c.121G= (p.Gly41=) c.124-12783G= (n.124-12783G=) | |
| 11 | g.2570652G>T | CA379129840 | KCNQ1 | c.241G>T (p.Gly81Trp) c.478-12783G>T (n.478-12783G>T) c.502G>T (p.Gly168Trp) c.121G>T (p.Gly41Trp) c.124-12783G>T (n.124-12783G>T) | gnomAD v4 |
| 11 | g.2570654del | CA007282 | KCNQ1 | c.243del (p.Thr82ArgfsTer?) c.478-12781del (n.478-12781del) c.504del (p.Thr169ArgfsTer?) c.123del (p.Thr42ArgfsTer?) c.124-12781del (n.124-12781del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570653G>A | CA379129841 | KCNQ1 | c.242G>A (p.Gly81Glu) c.478-12782G>A (n.478-12782G>A) c.503G>A (p.Gly168Glu) c.122G>A (p.Gly41Glu) c.124-12782G>A (n.124-12782G>A) | ClinVar |
| 11 | g.2570653G>C | CA379129842 | KCNQ1 | c.242G>C (p.Gly81Ala) c.478-12782G>C (n.478-12782G>C) c.503G>C (p.Gly168Ala) c.122G>C (p.Gly41Ala) c.124-12782G>C (n.124-12782G>C) | |
| 11 | g.2570653G>T | CA379129843 | KCNQ1 | c.242G>T (p.Gly81Val) c.478-12782G>T (n.478-12782G>T) c.503G>T (p.Gly168Val) c.122G>T (p.Gly41Val) c.124-12782G>T (n.124-12782G>T) | |
| 11 | g.2570654G>A | CA472037776 | KCNQ1 | c.243G>A (p.Gly81=) c.478-12781G>A (n.478-12781G>A) c.504G>A (p.Gly168=) c.123G>A (p.Gly41=) c.124-12781G>A (n.124-12781G>A) | ClinVar gnomAD v4 |
| 11 | g.2570654G>C | CA472037779 | KCNQ1 | c.243G>C (p.Gly81=) c.478-12781G>C (n.478-12781G>C) c.504G>C (p.Gly168=) c.123G>C (p.Gly41=) c.124-12781G>C (n.124-12781G>C) | |
| 11 | g.2570654G>T | CA472037781 | KCNQ1 | c.243G>T (p.Gly81=) c.478-12781G>T (n.478-12781G>T) c.504G>T (p.Gly168=) c.123G>T (p.Gly41=) c.124-12781G>T (n.124-12781G>T) | |
| 11 | g.2570655A>C | CA379129844 | KCNQ1 | c.244A>C (p.Thr82Pro) c.478-12780A>C (n.478-12780A>C) c.505A>C (p.Thr169Pro) c.124A>C (p.Thr42Pro) c.124-12780A>C (n.124-12780A>C) | |
| 11 | g.2570655A>G | CA379129845 | KCNQ1 | c.244A>G (p.Thr82Ala) c.478-12780A>G (n.478-12780A>G) c.505A>G (p.Thr169Ala) c.124A>G (p.Thr42Ala) c.124-12780A>G (n.124-12780A>G) | gnomAD v4 |
| 11 | g.2570655A>T | CA379129846 | KCNQ1 | c.244A>T (p.Thr82Ser) c.478-12780A>T (n.478-12780A>T) c.505A>T (p.Thr169Ser) c.124A>T (p.Thr42Ser) c.124-12780A>T (n.124-12780A>T) | |
| 11 | g.2570656C>A | CA379129847 | KCNQ1 | c.245C>A (p.Thr82Lys) c.478-12779C>A (n.478-12779C>A) c.506C>A (p.Thr169Lys) c.125C>A (p.Thr42Lys) c.124-12779C>A (n.124-12779C>A) | |
| 11 | g.2570656C= | CA1948239501 | KCNQ1 | c.245C= (p.Thr82=) c.478-12779C= (n.478-12779C=) c.506C= (p.Thr169=) c.125C= (p.Thr42=) c.124-12779C= (n.124-12779C=) | |
| 11 | g.2570656C>G | CA007290 | KCNQ1 | c.245C>G (p.Thr82Arg) c.478-12779C>G (n.478-12779C>G) c.506C>G (p.Thr169Arg) c.125C>G (p.Thr42Arg) c.124-12779C>G (n.124-12779C>G) | ClinVar dbSNP |
| 11 | g.2570656C>T | CA038071 | KCNQ1 | c.245C>T (p.Thr82Met) c.478-12779C>T (n.478-12779C>T) c.506C>T (p.Thr169Met) c.125C>T (p.Thr42Met) c.124-12779C>T (n.124-12779C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570657G>A | CA038081 | KCNQ1 | c.246G>A (p.Thr82=) c.478-12778G>A (n.478-12778G>A) c.507G>A (p.Thr169=) c.126G>A (p.Thr42=) c.124-12778G>A (n.124-12778G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570657G>C | CA472037785 | KCNQ1 | c.246G>C (p.Thr82=) c.478-12778G>C (n.478-12778G>C) c.507G>C (p.Thr169=) c.126G>C (p.Thr42=) c.124-12778G>C (n.124-12778G>C) | |
| 11 | g.2570657G= | CA1948239511 | KCNQ1 | c.246G= (p.Thr82=) c.478-12778G= (n.478-12778G=) c.507G= (p.Thr169=) c.126G= (p.Thr42=) c.124-12778G= (n.124-12778G=) | |
| 11 | g.2570657G>T | CA472037786 | KCNQ1 | c.246G>T (p.Thr82=) c.478-12778G>T (n.478-12778G>T) c.507G>T (p.Thr169=) c.126G>T (p.Thr42=) c.124-12778G>T (n.124-12778G>T) | |
| 11 | g.2570658G>A | CA379129848 | KCNQ1 | c.247G>A (p.Glu83Lys) c.478-12777G>A (n.478-12777G>A) c.508G>A (p.Glu170Lys) c.127G>A (p.Glu43Lys) c.124-12777G>A (n.124-12777G>A) | COSMIC COSMIC |
| 11 | g.2570658G>C | CA379129849 | KCNQ1 | c.247G>C (p.Glu83Gln) c.478-12777G>C (n.478-12777G>C) c.508G>C (p.Glu170Gln) c.127G>C (p.Glu43Gln) c.124-12777G>C (n.124-12777G>C) | |
| 11 | g.2570658G>T | CA379129850 | KCNQ1 | c.247G>T (p.Glu83Ter) c.478-12777G>T (n.478-12777G>T) c.508G>T (p.Glu170Ter) c.127G>T (p.Glu43Ter) c.124-12777G>T (n.124-12777G>T) | gnomAD v4 |
| 11 | g.2570659A>C | CA379129853 | KCNQ1 | c.248A>C (p.Glu83Ala) c.478-12776A>C (n.478-12776A>C) c.509A>C (p.Glu170Ala) c.128A>C (p.Glu43Ala) c.124-12776A>C (n.124-12776A>C) | |
| 11 | g.2570659A>G | CA379129851 | KCNQ1 | c.248A>G (p.Glu83Gly) c.478-12776A>G (n.478-12776A>G) c.509A>G (p.Glu170Gly) c.128A>G (p.Glu43Gly) c.124-12776A>G (n.124-12776A>G) | ClinVar |
| 11 | g.2570659A>T | CA379129852 | KCNQ1 | c.248A>T (p.Glu83Val) c.478-12776A>T (n.478-12776A>T) c.509A>T (p.Glu170Val) c.128A>T (p.Glu43Val) c.124-12776A>T (n.124-12776A>T) | |
| 11 | g.2570659_2570660delinsAG | CA1948239517 | KCNQ1 | c.248_249delinsAG (p.Glu83=) c.478-12776_478-12775delinsAG (n.478-12776_478-12775delinsAG) c.509_510delinsAG (p.Glu170=) c.128_129delinsAG (p.Glu43=) c.124-12776_124-12775delinsAG (n.124-12776_124-12775delinsAG) | |
| 11 | g.2570660del | CA658797566 | KCNQ1 | c.249del (p.Glu83AspfsTer?) c.478-12775del (n.478-12775del) c.510del (p.Glu170AspfsTer?) c.129del (p.Glu43AspfsTer?) c.124-12775del (n.124-12775del) | ClinVar dbSNP |
| 11 | g.2570660G>A | CA472037787 | KCNQ1 | c.249G>A (p.Glu83=) c.478-12775G>A (n.478-12775G>A) c.510G>A (p.Glu170=) c.129G>A (p.Glu43=) c.124-12775G>A (n.124-12775G>A) | |
| 11 | g.2570660G>C | CA379129854 | KCNQ1 | c.249G>C (p.Glu83Asp) c.478-12775G>C (n.478-12775G>C) c.510G>C (p.Glu170Asp) c.129G>C (p.Glu43Asp) c.124-12775G>C (n.124-12775G>C) | |
| 11 | g.2570660G>T | CA379129855 | KCNQ1 | c.249G>T (p.Glu83Asp) c.478-12775G>T (n.478-12775G>T) c.510G>T (p.Glu170Asp) c.129G>T (p.Glu43Asp) c.124-12775G>T (n.124-12775G>T) | |
| 11 | g.2570661T>A | CA379129856 | KCNQ1 | c.250T>A (p.Tyr84Asn) c.478-12774T>A (n.478-12774T>A) c.511T>A (p.Tyr171Asn) c.130T>A (p.Tyr44Asn) c.124-12774T>A (n.124-12774T>A) | |
| 11 | g.2570661T>C | CA379129857 | KCNQ1 | c.250T>C (p.Tyr84His) c.478-12774T>C (n.478-12774T>C) c.511T>C (p.Tyr171His) c.130T>C (p.Tyr44His) c.124-12774T>C (n.124-12774T>C) | ClinVar dbSNP |
| 11 | g.2570661T>G | CA379129858 | KCNQ1 | c.250T>G (p.Tyr84Asp) c.478-12774T>G (n.478-12774T>G) c.511T>G (p.Tyr171Asp) c.130T>G (p.Tyr44Asp) c.124-12774T>G (n.124-12774T>G) |