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 |
|---|---|---|---|---|---|
| 2 | g.165097290C>A | CA349025040 | SCN3A | c.4150G>T (p.Asp1384Tyr) c.4201G>T (p.Asp1401Tyr) c.*2042G>T (n.*2042G>T) c.*935G>T (n.*935G>T) c.2410G>T (n.2410G>T) c.4054G>T (p.Asp1352Tyr) n.325G>T c.2311G>T (p.Asp771Tyr) c.4063G>T (p.Asp1355Tyr) | |
| 2 | g.165097290C= | CA1304438418 | SCN3A | c.4150G= (p.Asp1384=) c.4201G= (p.Asp1401=) c.*2042G= (n.*2042G=) c.*935G= (n.*935G=) c.2410G= (n.2410G=) c.4054G= (p.Asp1352=) n.325G= c.2311G= (p.Asp771=) c.4063G= (p.Asp1355=) | |
| 2 | g.165097290C>G | CA349025045 | SCN3A | c.4150G>C (p.Asp1384His) c.4201G>C (p.Asp1401His) c.*2042G>C (n.*2042G>C) c.*935G>C (n.*935G>C) c.2410G>C (n.2410G>C) c.4054G>C (p.Asp1352His) n.325G>C c.2311G>C (p.Asp771His) c.4063G>C (p.Asp1355His) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.165097290C>T | CA349025051 | SCN3A | c.4150G>A (p.Asp1384Asn) c.4201G>A (p.Asp1401Asn) c.*2042G>A (n.*2042G>A) c.*935G>A (n.*935G>A) c.2410G>A (n.2410G>A) c.4054G>A (p.Asp1352Asn) n.325G>A c.2311G>A (p.Asp771Asn) c.4063G>A (p.Asp1355Asn) | ClinVar COSMIC |
| 2 | g.165097291A>C | CA349025056 | SCN3A | c.4149T>G (p.Phe1383Leu) c.4200T>G (p.Phe1400Leu) c.*2041T>G (n.*2041T>G) c.*934T>G (n.*934T>G) c.2409T>G (n.2409T>G) c.4053T>G (p.Phe1351Leu) n.324T>G c.2310T>G (p.Phe770Leu) c.4062T>G (p.Phe1354Leu) | |
| 2 | g.165097291A>G | CA429880808 | SCN3A | c.4149T>C (p.Phe1383=) c.4200T>C (p.Phe1400=) c.*2041T>C (n.*2041T>C) c.*934T>C (n.*934T>C) c.2409T>C (n.2409T>C) c.4053T>C (p.Phe1351=) n.324T>C c.2310T>C (p.Phe770=) c.4062T>C (p.Phe1354=) | |
| 2 | g.165097291A>T | CA349025057 | SCN3A | c.4149T>A (p.Phe1383Leu) c.4200T>A (p.Phe1400Leu) c.*2041T>A (n.*2041T>A) c.*934T>A (n.*934T>A) c.2409T>A (n.2409T>A) c.4053T>A (p.Phe1351Leu) n.324T>A c.2310T>A (p.Phe770Leu) c.4062T>A (p.Phe1354Leu) | |
| 2 | g.165097292A>C | CA349025058 | SCN3A | c.4148T>G (p.Phe1383Cys) c.4199T>G (p.Phe1400Cys) c.*2040T>G (n.*2040T>G) c.*933T>G (n.*933T>G) c.2408T>G (n.2408T>G) c.4052T>G (p.Phe1351Cys) n.323T>G c.2309T>G (p.Phe770Cys) c.4061T>G (p.Phe1354Cys) | |
| 2 | g.165097292A>G | CA349025060 | SCN3A | c.4148T>C (p.Phe1383Ser) c.4199T>C (p.Phe1400Ser) c.*2040T>C (n.*2040T>C) c.*933T>C (n.*933T>C) c.2408T>C (n.2408T>C) c.4052T>C (p.Phe1351Ser) n.323T>C c.2309T>C (p.Phe770Ser) c.4061T>C (p.Phe1354Ser) | |
| 2 | g.165097292A>T | CA349025063 | SCN3A | c.4148T>A (p.Phe1383Tyr) c.4199T>A (p.Phe1400Tyr) c.*2040T>A (n.*2040T>A) c.*933T>A (n.*933T>A) c.2408T>A (n.2408T>A) c.4052T>A (p.Phe1351Tyr) n.323T>A c.2309T>A (p.Phe770Tyr) c.4061T>A (p.Phe1354Tyr) | |
| 2 | g.165097293A>C | CA349025064 | SCN3A | c.4147T>G (p.Phe1383Val) c.4198T>G (p.Phe1400Val) c.*2039T>G (n.*2039T>G) c.*932T>G (n.*932T>G) c.2407T>G (n.2407T>G) c.4051T>G (p.Phe1351Val) n.322T>G c.2308T>G (p.Phe770Val) c.4060T>G (p.Phe1354Val) | |
| 2 | g.165097293A>G | CA349025065 | SCN3A | c.4147T>C (p.Phe1383Leu) c.4198T>C (p.Phe1400Leu) c.*2039T>C (n.*2039T>C) c.*932T>C (n.*932T>C) c.2407T>C (n.2407T>C) c.4051T>C (p.Phe1351Leu) n.322T>C c.2308T>C (p.Phe770Leu) c.4060T>C (p.Phe1354Leu) | |
| 2 | g.165097293A>T | CA349025068 | SCN3A | c.4147T>A (p.Phe1383Ile) c.4198T>A (p.Phe1400Ile) c.*2039T>A (n.*2039T>A) c.*932T>A (n.*932T>A) c.2407T>A (n.2407T>A) c.4051T>A (p.Phe1351Ile) n.322T>A c.2308T>A (p.Phe770Ile) c.4060T>A (p.Phe1354Ile) | |
| 2 | g.165097294G>A | CA429880809 | SCN3A | c.4146C>T (p.Asn1382=) c.4197C>T (p.Asn1399=) c.*2038C>T (n.*2038C>T) c.*931C>T (n.*931C>T) c.2406C>T (n.2406C>T) c.4050C>T (p.Asn1350=) n.321C>T c.2307C>T (p.Asn769=) c.4059C>T (p.Asn1353=) | dbSNP |
| 2 | g.165097294G>C | CA349025072 | SCN3A | c.4146C>G (p.Asn1382Lys) c.4197C>G (p.Asn1399Lys) c.*2038C>G (n.*2038C>G) c.*931C>G (n.*931C>G) c.2406C>G (n.2406C>G) c.4050C>G (p.Asn1350Lys) n.321C>G c.2307C>G (p.Asn769Lys) c.4059C>G (p.Asn1353Lys) | |
| 2 | g.165097294G= | CA1304438419 | SCN3A | c.4146C= (p.Asn1382=) c.4197C= (p.Asn1399=) c.*2038C= (n.*2038C=) c.*931C= (n.*931C=) c.2406C= (n.2406C=) c.4050C= (p.Asn1350=) n.321C= c.2307C= (p.Asn769=) c.4059C= (p.Asn1353=) | |
| 2 | g.165097294G>T | CA349025075 | SCN3A | c.4146C>A (p.Asn1382Lys) c.4197C>A (p.Asn1399Lys) c.*2038C>A (n.*2038C>A) c.*931C>A (n.*931C>A) c.2406C>A (n.2406C>A) c.4050C>A (p.Asn1350Lys) n.321C>A c.2307C>A (p.Asn769Lys) c.4059C>A (p.Asn1353Lys) | |
| 2 | g.165097295T>A | CA349025097 | SCN3A | c.4145A>T (p.Asn1382Ile) c.4196A>T (p.Asn1399Ile) c.*2037A>T (n.*2037A>T) c.*930A>T (n.*930A>T) c.2405A>T (n.2405A>T) c.4049A>T (p.Asn1350Ile) n.320A>T c.2306A>T (p.Asn769Ile) c.4058A>T (p.Asn1353Ile) | |
| 2 | g.165097295T>C | CA349025098 | SCN3A | c.4145A>G (p.Asn1382Ser) c.4196A>G (p.Asn1399Ser) c.*2037A>G (n.*2037A>G) c.*930A>G (n.*930A>G) c.2405A>G (n.2405A>G) c.4049A>G (p.Asn1350Ser) n.320A>G c.2306A>G (p.Asn769Ser) c.4058A>G (p.Asn1353Ser) | |
| 2 | g.165097295T>G | CA349025099 | SCN3A | c.4145A>C (p.Asn1382Thr) c.4196A>C (p.Asn1399Thr) c.*2037A>C (n.*2037A>C) c.*930A>C (n.*930A>C) c.2405A>C (n.2405A>C) c.4049A>C (p.Asn1350Thr) n.320A>C c.2306A>C (p.Asn769Thr) c.4058A>C (p.Asn1353Thr) | |
| 2 | g.165097296T>A | CA349025105 | SCN3A | c.4144A>T (p.Asn1382Tyr) c.4195A>T (p.Asn1399Tyr) c.*2036A>T (n.*2036A>T) c.*929A>T (n.*929A>T) c.2404A>T (n.2404A>T) c.4048A>T (p.Asn1350Tyr) n.319A>T c.2305A>T (p.Asn769Tyr) c.4057A>T (p.Asn1353Tyr) | |
| 2 | g.165097296T>C | CA349025102 | SCN3A | c.4144A>G (p.Asn1382Asp) c.4195A>G (p.Asn1399Asp) c.*2036A>G (n.*2036A>G) c.*929A>G (n.*929A>G) c.2404A>G (n.2404A>G) c.4048A>G (p.Asn1350Asp) n.319A>G c.2305A>G (p.Asn769Asp) c.4057A>G (p.Asn1353Asp) | |
| 2 | g.165097296T>G | CA349025100 | SCN3A | c.4144A>C (p.Asn1382His) c.4195A>C (p.Asn1399His) c.*2036A>C (n.*2036A>C) c.*929A>C (n.*929A>C) c.2404A>C (n.2404A>C) c.4048A>C (p.Asn1350His) n.319A>C c.2305A>C (p.Asn769His) c.4057A>C (p.Asn1353His) | |
| 2 | g.165097297T>A | CA429880810 | SCN3A | c.4143A>T (p.Val1381=) c.4194A>T (p.Val1398=) c.*2035A>T (n.*2035A>T) c.*928A>T (n.*928A>T) c.2403A>T (n.2403A>T) c.4047A>T (p.Val1349=) n.318A>T c.2304A>T (p.Val768=) c.4056A>T (p.Val1352=) | |
| 2 | g.165097297T>C | CA429880811 | SCN3A | c.4143A>G (p.Val1381=) c.4194A>G (p.Val1398=) c.*2035A>G (n.*2035A>G) c.*928A>G (n.*928A>G) c.2403A>G (n.2403A>G) c.4047A>G (p.Val1349=) n.318A>G c.2304A>G (p.Val768=) c.4056A>G (p.Val1352=) | gnomAD v4 |
| 2 | g.165097297T>G | CA429880812 | SCN3A | c.4143A>C (p.Val1381=) c.4194A>C (p.Val1398=) c.*2035A>C (n.*2035A>C) c.*928A>C (n.*928A>C) c.2403A>C (n.2403A>C) c.4047A>C (p.Val1349=) n.318A>C c.2304A>C (p.Val768=) c.4056A>C (p.Val1352=) | |
| 2 | g.165097298A>C | CA349025111 | SCN3A | c.4142T>G (p.Val1381Gly) c.4193T>G (p.Val1398Gly) c.*2034T>G (n.*2034T>G) c.*927T>G (n.*927T>G) c.2402T>G (n.2402T>G) c.4046T>G (p.Val1349Gly) n.317T>G c.2303T>G (p.Val768Gly) c.4055T>G (p.Val1352Gly) | |
| 2 | g.165097298A>G | CA349025114 | SCN3A | c.4142T>C (p.Val1381Ala) c.4193T>C (p.Val1398Ala) c.*2034T>C (n.*2034T>C) c.*927T>C (n.*927T>C) c.2402T>C (n.2402T>C) c.4046T>C (p.Val1349Ala) n.317T>C c.2303T>C (p.Val768Ala) c.4055T>C (p.Val1352Ala) | |
| 2 | g.165097298A>T | CA349025116 | SCN3A | c.4142T>A (p.Val1381Glu) c.4193T>A (p.Val1398Glu) c.*2034T>A (n.*2034T>A) c.*927T>A (n.*927T>A) c.2402T>A (n.2402T>A) c.4046T>A (p.Val1349Glu) n.317T>A c.2303T>A (p.Val768Glu) c.4055T>A (p.Val1352Glu) | |
| 2 | g.165097299C>A | CA349025121 | SCN3A | c.4141G>T (p.Val1381Leu) c.4192G>T (p.Val1398Leu) c.*2033G>T (n.*2033G>T) c.*926G>T (n.*926G>T) c.2401G>T (n.2401G>T) c.4045G>T (p.Val1349Leu) n.316G>T c.2302G>T (p.Val768Leu) c.4054G>T (p.Val1352Leu) | |
| 2 | g.165097299C>G | CA349025128 | SCN3A | c.4141G>C (p.Val1381Leu) c.4192G>C (p.Val1398Leu) c.*2033G>C (n.*2033G>C) c.*926G>C (n.*926G>C) c.2401G>C (n.2401G>C) c.4045G>C (p.Val1349Leu) n.316G>C c.2302G>C (p.Val768Leu) c.4054G>C (p.Val1352Leu) | gnomAD v4 |
| 2 | g.165097299C>T | CA349025133 | SCN3A | c.4141G>A (p.Val1381Ile) c.4192G>A (p.Val1398Ile) c.*2033G>A (n.*2033G>A) c.*926G>A (n.*926G>A) c.2401G>A (n.2401G>A) c.4045G>A (p.Val1349Ile) n.316G>A c.2302G>A (p.Val768Ile) c.4054G>A (p.Val1352Ile) | |
| 2 | g.165097300T>A | CA349025138 | SCN3A | c.4140A>T (p.Lys1380Asn) c.4191A>T (p.Lys1397Asn) c.*2032A>T (n.*2032A>T) c.*925A>T (n.*925A>T) c.2400A>T (n.2400A>T) c.4044A>T (p.Lys1348Asn) n.315A>T c.2301A>T (p.Lys767Asn) c.4053A>T (p.Lys1351Asn) | COSMIC COSMIC |
| 2 | g.165097300T>C | CA429880813 | SCN3A | c.4140A>G (p.Lys1380=) c.4191A>G (p.Lys1397=) c.*2032A>G (n.*2032A>G) c.*925A>G (n.*925A>G) c.2400A>G (n.2400A>G) c.4044A>G (p.Lys1348=) n.315A>G c.2301A>G (p.Lys767=) c.4053A>G (p.Lys1351=) | |
| 2 | g.165097300T>G | CA59712660 | SCN3A | c.4140A>C (p.Lys1380Asn) c.4191A>C (p.Lys1397Asn) c.*2032A>C (n.*2032A>C) c.*925A>C (n.*925A>C) c.2400A>C (n.2400A>C) c.4044A>C (p.Lys1348Asn) n.315A>C c.2301A>C (p.Lys767Asn) c.4053A>C (p.Lys1351Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165097300T= | CA1304438420 | SCN3A | c.4140A= (p.Lys1380=) c.4191A= (p.Lys1397=) c.*2032A= (n.*2032A=) c.*925A= (n.*925A=) c.2400A= (n.2400A=) c.4044A= (p.Lys1348=) n.315A= c.2301A= (p.Lys767=) c.4053A= (p.Lys1351=) | |
| 2 | g.165097301T>A | CA349025146 | SCN3A | c.4139A>T (p.Lys1380Ile) c.4190A>T (p.Lys1397Ile) c.*2031A>T (n.*2031A>T) c.*924A>T (n.*924A>T) c.2399A>T (n.2399A>T) c.4043A>T (p.Lys1348Ile) n.314A>T c.2300A>T (p.Lys767Ile) c.4052A>T (p.Lys1351Ile) | |
| 2 | g.165097301T>C | CA349025150 | SCN3A | c.4139A>G (p.Lys1380Arg) c.4190A>G (p.Lys1397Arg) c.*2031A>G (n.*2031A>G) c.*924A>G (n.*924A>G) c.2399A>G (n.2399A>G) c.4043A>G (p.Lys1348Arg) n.314A>G c.2300A>G (p.Lys767Arg) c.4052A>G (p.Lys1351Arg) | |
| 2 | g.165097301T>G | CA349025154 | SCN3A | c.4139A>C (p.Lys1380Thr) c.4190A>C (p.Lys1397Thr) c.*2031A>C (n.*2031A>C) c.*924A>C (n.*924A>C) c.2399A>C (n.2399A>C) c.4043A>C (p.Lys1348Thr) n.314A>C c.2300A>C (p.Lys767Thr) c.4052A>C (p.Lys1351Thr) | |
| 2 | g.165097302T>A | CA349025164 | SCN3A | c.4138A>T (p.Lys1380Ter) c.4189A>T (p.Lys1397Ter) c.*2030A>T (n.*2030A>T) c.*923A>T (n.*923A>T) c.2398A>T (n.2398A>T) c.4042A>T (p.Lys1348Ter) n.313A>T c.2299A>T (p.Lys767Ter) c.4051A>T (p.Lys1351Ter) | dbSNP |
| 2 | g.165097302T>C | CA349025168 | SCN3A | c.4138A>G (p.Lys1380Glu) c.4189A>G (p.Lys1397Glu) c.*2030A>G (n.*2030A>G) c.*923A>G (n.*923A>G) c.2398A>G (n.2398A>G) c.4042A>G (p.Lys1348Glu) n.313A>G c.2299A>G (p.Lys767Glu) c.4051A>G (p.Lys1351Glu) | |
| 2 | g.165097302T>G | CA349025171 | SCN3A | c.4138A>C (p.Lys1380Gln) c.4189A>C (p.Lys1397Gln) c.*2030A>C (n.*2030A>C) c.*923A>C (n.*923A>C) c.2398A>C (n.2398A>C) c.4042A>C (p.Lys1348Gln) n.313A>C c.2299A>C (p.Lys767Gln) c.4051A>C (p.Lys1351Gln) | |
| 2 | g.165097302T= | CA1304438421 | SCN3A | c.4138A= (p.Lys1380=) c.4189A= (p.Lys1397=) c.*2030A= (n.*2030A=) c.*923A= (n.*923A=) c.2398A= (n.2398A=) c.4042A= (p.Lys1348=) n.313A= c.2299A= (p.Lys767=) c.4051A= (p.Lys1351=) | |
| 2 | g.165097303C>A | CA429880815 | SCN3A | c.4137G>T (p.Val1379=) c.4188G>T (p.Val1396=) c.*2029G>T (n.*2029G>T) c.*922G>T (n.*922G>T) c.2397G>T (n.2397G>T) c.4041G>T (p.Val1347=) n.312G>T c.2298G>T (p.Val766=) c.4050G>T (p.Val1350=) | |
| 2 | g.165097303C= | CA1304438422 | SCN3A | c.4137G= (p.Val1379=) c.4188G= (p.Val1396=) c.*2029G= (n.*2029G=) c.*922G= (n.*922G=) c.2397G= (n.2397G=) c.4041G= (p.Val1347=) n.312G= c.2298G= (p.Val766=) c.4050G= (p.Val1350=) | |
| 2 | g.165097303C>G | CA1938634 | SCN3A | c.4137G>C (p.Val1379=) c.4188G>C (p.Val1396=) c.*2029G>C (n.*2029G>C) c.*922G>C (n.*922G>C) c.2397G>C (n.2397G>C) c.4041G>C (p.Val1347=) n.312G>C c.2298G>C (p.Val766=) c.4050G>C (p.Val1350=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.165097303C>T | CA429880814 | SCN3A | c.4137G>A (p.Val1379=) c.4188G>A (p.Val1396=) c.*2029G>A (n.*2029G>A) c.*922G>A (n.*922G>A) c.2397G>A (n.2397G>A) c.4041G>A (p.Val1347=) n.312G>A c.2298G>A (p.Val766=) c.4050G>A (p.Val1350=) | COSMIC COSMIC |
| 2 | g.165097304A= | CA1304438423 | SCN3A | c.4136T= (p.Val1379=) c.4187T= (p.Val1396=) c.*2028T= (n.*2028T=) c.*921T= (n.*921T=) c.2396T= (n.2396T=) c.4040T= (p.Val1347=) n.311T= c.2297T= (p.Val766=) c.4049T= (p.Val1350=) | |
| 2 | g.165097304A>C | CA349025179 | SCN3A | c.4136T>G (p.Val1379Gly) c.4187T>G (p.Val1396Gly) c.*2028T>G (n.*2028T>G) c.*921T>G (n.*921T>G) c.2396T>G (n.2396T>G) c.4040T>G (p.Val1347Gly) n.311T>G c.2297T>G (p.Val766Gly) c.4049T>G (p.Val1350Gly) | dbSNP gnomAD v4 |
| 2 | g.165097304A>G | CA59712684 | SCN3A | c.4136T>C (p.Val1379Ala) c.4187T>C (p.Val1396Ala) c.*2028T>C (n.*2028T>C) c.*921T>C (n.*921T>C) c.2396T>C (n.2396T>C) c.4040T>C (p.Val1347Ala) n.311T>C c.2297T>C (p.Val766Ala) c.4049T>C (p.Val1350Ala) | dbSNP |