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 |
|---|---|---|---|---|---|
| 3 | g.38560304del | CA2499216734 | SCN5A | c.4085del (p.Cys1362SerfsTer11) c.4088del (p.Cys1363SerfsTer11) c.3926del (p.Cys1309SerfsTer11) c.3959del (p.Cys1320SerfsTer11) | ClinVar dbSNP |
| 3 | g.38560304C>A | CA352147070 | SCN5A | c.4085G>T (p.Cys1362Phe) c.4088G>T (p.Cys1363Phe) c.3926G>T (p.Cys1309Phe) c.3959G>T (p.Cys1320Phe) | |
| 3 | g.38560304C= | CA1358565714 | SCN5A | c.4085G= (p.Cys1362=) c.4088G= (p.Cys1363=) c.3926G= (p.Cys1309=) c.3959G= (p.Cys1320=) | |
| 3 | g.38560304C>G | CA352147072 | SCN5A | c.4085G>C (p.Cys1362Ser) c.4088G>C (p.Cys1363Ser) c.3926G>C (p.Cys1309Ser) c.3959G>C (p.Cys1320Ser) | |
| 3 | g.38560304C>T | CA017882 | SCN5A | c.4085G>A (p.Cys1362Tyr) c.4088G>A (p.Cys1363Tyr) c.3926G>A (p.Cys1309Tyr) c.3959G>A (p.Cys1320Tyr) | ClinVar dbSNP |
| 3 | g.38560305A>C | CA352147074 | SCN5A | c.4084T>G (p.Cys1362Gly) c.4087T>G (p.Cys1363Gly) c.3925T>G (p.Cys1309Gly) c.3958T>G (p.Cys1320Gly) | |
| 3 | g.38560305A>G | CA352147076 | SCN5A | c.4084T>C (p.Cys1362Arg) c.4087T>C (p.Cys1363Arg) c.3925T>C (p.Cys1309Arg) c.3958T>C (p.Cys1320Arg) | |
| 3 | g.38560305A>T | CA352147078 | SCN5A | c.4084T>A (p.Cys1362Ser) c.4087T>A (p.Cys1363Ser) c.3925T>A (p.Cys1309Ser) c.3958T>A (p.Cys1320Ser) | |
| 3 | g.38560306C>A | CA062817 | SCN5A | c.4083G>T (p.Arg1361Ser) c.4086G>T (p.Arg1362Ser) c.3924G>T (p.Arg1308Ser) c.3957G>T (p.Arg1319Ser) | dbSNP ExAC gnomAD v2 |
| 3 | g.38560306C= | CA1358565715 | SCN5A | c.4083G= (p.Arg1361=) c.4086G= (p.Arg1362=) c.3924G= (p.Arg1308=) c.3957G= (p.Arg1319=) | |
| 3 | g.38560306C>G | CA352147081 | SCN5A | c.4083G>C (p.Arg1361Ser) c.4086G>C (p.Arg1362Ser) c.3924G>C (p.Arg1308Ser) c.3957G>C (p.Arg1319Ser) | |
| 3 | g.38560306C>T | CA017877 | SCN5A | c.4083G>A (p.Arg1361=) c.4086G>A (p.Arg1362=) c.3924G>A (p.Arg1308=) c.3957G>A (p.Arg1319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560307del | CA2586965774 | SCN5A | c.4083del (p.Arg1361SerfsTer12) c.4086del (p.Arg1362SerfsTer12) c.3924del (p.Arg1308SerfsTer12) c.3957del (p.Arg1319SerfsTer12) | |
| 3 | g.38560307C>A | CA352147088 | SCN5A | c.4082G>T (p.Arg1361Met) c.4085G>T (p.Arg1362Met) c.3923G>T (p.Arg1308Met) c.3956G>T (p.Arg1319Met) | |
| 3 | g.38560307C= | CA1358565716 | SCN5A | c.4082G= (p.Arg1361=) c.4085G= (p.Arg1362=) c.3923G= (p.Arg1308=) c.3956G= (p.Arg1319=) | |
| 3 | g.38560307C>G | CA352147084 | SCN5A | c.4082G>C (p.Arg1361Thr) c.4085G>C (p.Arg1362Thr) c.3923G>C (p.Arg1308Thr) c.3956G>C (p.Arg1319Thr) | |
| 3 | g.38560307C>T | CA352147086 | SCN5A | c.4082G>A (p.Arg1361Lys) c.4085G>A (p.Arg1362Lys) c.3923G>A (p.Arg1308Lys) c.3956G>A (p.Arg1319Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38560308T>A | CA352147089 | SCN5A | c.4081A>T (p.Arg1361Trp) c.4084A>T (p.Arg1362Trp) c.3922A>T (p.Arg1308Trp) c.3955A>T (p.Arg1319Trp) | |
| 3 | g.38560308T>C | CA352147090 | SCN5A | c.4081A>G (p.Arg1361Gly) c.4084A>G (p.Arg1362Gly) c.3922A>G (p.Arg1308Gly) c.3955A>G (p.Arg1319Gly) | |
| 3 | g.38560308T>G | CA433332427 | SCN5A | c.4081A>C (p.Arg1361=) c.4084A>C (p.Arg1362=) c.3922A>C (p.Arg1308=) c.3955A>C (p.Arg1319=) | |
| 3 | g.38560309C>A | CA433332428 | SCN5A | c.4080G>T (p.Gly1360=) c.4083G>T (p.Gly1361=) c.3921G>T (p.Gly1307=) c.3954G>T (p.Gly1318=) | |
| 3 | g.38560309C>G | CA433332429 | SCN5A | c.4080G>C (p.Gly1360=) c.4083G>C (p.Gly1361=) c.3921G>C (p.Gly1307=) c.3954G>C (p.Gly1318=) | |
| 3 | g.38560309C>T | CA433332430 | SCN5A | c.4080G>A (p.Gly1360=) c.4083G>A (p.Gly1361=) c.3921G>A (p.Gly1307=) c.3954G>A (p.Gly1318=) | |
| 3 | g.38560311del | CA2586965775 | SCN5A | c.4080del (p.Arg1361GlyfsTer12) c.4083del (p.Arg1362GlyfsTer12) c.3921del (p.Arg1308GlyfsTer12) c.3954del (p.Arg1319GlyfsTer12) | |
| 3 | g.38560310C>A | CA352147092 | SCN5A | c.4079G>T (p.Gly1360Val) c.4082G>T (p.Gly1361Val) c.3920G>T (p.Gly1307Val) c.3953G>T (p.Gly1318Val) | |
| 3 | g.38560310C>G | CA352147093 | SCN5A | c.4079G>C (p.Gly1360Ala) c.4082G>C (p.Gly1361Ala) c.3920G>C (p.Gly1307Ala) c.3953G>C (p.Gly1318Ala) | |
| 3 | g.38560310C>T | CA352147096 | SCN5A | c.4079G>A (p.Gly1360Glu) c.4082G>A (p.Gly1361Glu) c.3920G>A (p.Gly1307Glu) c.3953G>A (p.Gly1318Glu) | ClinVar dbSNP |
| 3 | g.38560311C>A | CA352147098 | SCN5A | c.4078G>T (p.Gly1360Trp) c.4081G>T (p.Gly1361Trp) c.3919G>T (p.Gly1307Trp) c.3952G>T (p.Gly1318Trp) | |
| 3 | g.38560311C>G | CA352147100 | SCN5A | c.4078G>C (p.Gly1360Arg) c.4081G>C (p.Gly1361Arg) c.3919G>C (p.Gly1307Arg) c.3952G>C (p.Gly1318Arg) | |
| 3 | g.38560311C>T | CA352147102 | SCN5A | c.4078G>A (p.Gly1360Arg) c.4081G>A (p.Gly1361Arg) c.3919G>A (p.Gly1307Arg) c.3952G>A (p.Gly1318Arg) | |
| 3 | g.38560312A>C | CA352147105 | SCN5A | c.4077T>G (p.Phe1359Leu) c.4080T>G (p.Phe1360Leu) c.3918T>G (p.Phe1306Leu) c.3951T>G (p.Phe1317Leu) | |
| 3 | g.38560312A>G | CA433332434 | SCN5A | c.4077T>C (p.Phe1359=) c.4080T>C (p.Phe1360=) c.3918T>C (p.Phe1306=) c.3951T>C (p.Phe1317=) | |
| 3 | g.38560312A>T | CA352147107 | SCN5A | c.4077T>A (p.Phe1359Leu) c.4080T>A (p.Phe1360Leu) c.3918T>A (p.Phe1306Leu) c.3951T>A (p.Phe1317Leu) | |
| 3 | g.38560313A= | CA1358565717 | SCN5A | c.4076T= (p.Phe1359=) c.4079T= (p.Phe1360=) c.3917T= (p.Phe1306=) c.3950T= (p.Phe1317=) | |
| 3 | g.38560313A>C | CA017864 | SCN5A | c.4076T>G (p.Phe1359Cys) c.4079T>G (p.Phe1360Cys) c.3917T>G (p.Phe1306Cys) c.3950T>G (p.Phe1317Cys) | ClinVar dbSNP |
| 3 | g.38560313A>G | CA352147114 | SCN5A | c.4076T>C (p.Phe1359Ser) c.4079T>C (p.Phe1360Ser) c.3917T>C (p.Phe1306Ser) c.3950T>C (p.Phe1317Ser) | ClinVar |
| 3 | g.38560313A>T | CA352147110 | SCN5A | c.4076T>A (p.Phe1359Tyr) c.4079T>A (p.Phe1360Tyr) c.3917T>A (p.Phe1306Tyr) c.3950T>A (p.Phe1317Tyr) | |
| 3 | g.38560314A>C | CA352147118 | SCN5A | c.4075T>G (p.Phe1359Val) c.4078T>G (p.Phe1360Val) c.3916T>G (p.Phe1306Val) c.3949T>G (p.Phe1317Val) | |
| 3 | g.38560314A>G | CA352147119 | SCN5A | c.4075T>C (p.Phe1359Leu) c.4078T>C (p.Phe1360Leu) c.3916T>C (p.Phe1306Leu) c.3949T>C (p.Phe1317Leu) | |
| 3 | g.38560314A>T | CA352147121 | SCN5A | c.4075T>A (p.Phe1359Ile) c.4078T>A (p.Phe1360Ile) c.3916T>A (p.Phe1306Ile) c.3949T>A (p.Phe1317Ile) | |
| 3 | g.38560315C>A | CA017858 | SCN5A | c.4074G>T (p.Lys1358Asn) c.4077G>T (p.Lys1359Asn) c.3915G>T (p.Lys1305Asn) c.3948G>T (p.Lys1316Asn) | ClinVar dbSNP |
| 3 | g.38560315C= | CA1358565718 | SCN5A | c.4074G= (p.Lys1358=) c.4077G= (p.Lys1359=) c.3915G= (p.Lys1305=) c.3948G= (p.Lys1316=) | |
| 3 | g.38560315C>G | CA352147126 | SCN5A | c.4074G>C (p.Lys1358Asn) c.4077G>C (p.Lys1359Asn) c.3915G>C (p.Lys1305Asn) c.3948G>C (p.Lys1316Asn) | |
| 3 | g.38560315C>T | CA062806 | SCN5A | c.4074G>A (p.Lys1358=) c.4077G>A (p.Lys1359=) c.3915G>A (p.Lys1305=) c.3948G>A (p.Lys1316=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38560316T>A | CA062799 | SCN5A | c.4073A>T (p.Lys1358Met) c.4076A>T (p.Lys1359Met) c.3914A>T (p.Lys1305Met) c.3947A>T (p.Lys1316Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560316T>C | CA352147134 | SCN5A | c.4073A>G (p.Lys1358Arg) c.4076A>G (p.Lys1359Arg) c.3914A>G (p.Lys1305Arg) c.3947A>G (p.Lys1316Arg) | |
| 3 | g.38560316T>G | CA352147136 | SCN5A | c.4073A>C (p.Lys1358Thr) c.4076A>C (p.Lys1359Thr) c.3914A>C (p.Lys1305Thr) c.3947A>C (p.Lys1316Thr) | ClinVar dbSNP |
| 3 | g.38560316T= | CA1358565719 | SCN5A | c.4073A= (p.Lys1358=) c.4076A= (p.Lys1359=) c.3914A= (p.Lys1305=) c.3947A= (p.Lys1316=) | |
| 3 | g.38560317T>A | CA352147138 | SCN5A | c.4072A>T (p.Lys1358Ter) c.4075A>T (p.Lys1359Ter) c.3913A>T (p.Lys1305Ter) c.3946A>T (p.Lys1316Ter) | dbSNP |
| 3 | g.38560317T>C | CA352147141 | SCN5A | c.4072A>G (p.Lys1358Glu) c.4075A>G (p.Lys1359Glu) c.3913A>G (p.Lys1305Glu) c.3946A>G (p.Lys1316Glu) |