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.38560404C>A | CA352147588 | SCN5A | c.3985G>T (p.Ala1329Ser) c.3988G>T (p.Ala1330Ser) c.3826G>T (p.Ala1276Ser) c.3859G>T (p.Ala1287Ser) | |
| 3 | g.38560404C= | CA1358565770 | SCN5A | c.3985G= (p.Ala1329=) c.3988G= (p.Ala1330=) c.3826G= (p.Ala1276=) c.3859G= (p.Ala1287=) | |
| 3 | g.38560404C>G | CA017704 | SCN5A | c.3985G>C (p.Ala1329Pro) c.3988G>C (p.Ala1330Pro) c.3826G>C (p.Ala1276Pro) c.3859G>C (p.Ala1287Pro) | ClinVar dbSNP |
| 3 | g.38560404C>T | CA017699 | SCN5A | c.3985G>A (p.Ala1329Thr) c.3988G>A (p.Ala1330Thr) c.3826G>A (p.Ala1276Thr) c.3859G>A (p.Ala1287Thr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38560405G>A | CA062697 | SCN5A | c.3984C>T (p.Gly1328=) c.3987C>T (p.Gly1329=) c.3825C>T (p.Gly1275=) c.3858C>T (p.Gly1286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38560405G>C | CA433332425 | SCN5A | c.3984C>G (p.Gly1328=) c.3987C>G (p.Gly1329=) c.3825C>G (p.Gly1275=) c.3858C>G (p.Gly1286=) | |
| 3 | g.38560405G= | CA1358565771 | SCN5A | c.3984C= (p.Gly1328=) c.3987C= (p.Gly1329=) c.3825C= (p.Gly1275=) c.3858C= (p.Gly1286=) | |
| 3 | g.38560405G>T | CA433332426 | SCN5A | c.3984C>A (p.Gly1328=) c.3987C>A (p.Gly1329=) c.3825C>A (p.Gly1275=) c.3858C>A (p.Gly1286=) | |
| 3 | g.38560406C>A | CA352147598 | SCN5A | c.3983G>T (p.Gly1328Val) c.3986G>T (p.Gly1329Val) c.3824G>T (p.Gly1275Val) c.3857G>T (p.Gly1286Val) | |
| 3 | g.38560406C>G | CA352147593 | SCN5A | c.3983G>C (p.Gly1328Ala) c.3986G>C (p.Gly1329Ala) c.3824G>C (p.Gly1275Ala) c.3857G>C (p.Gly1286Ala) | |
| 3 | g.38560406C>T | CA352147595 | SCN5A | c.3983G>A (p.Gly1328Asp) c.3986G>A (p.Gly1329Asp) c.3824G>A (p.Gly1275Asp) c.3857G>A (p.Gly1286Asp) | |
| 3 | g.38560407_38560452del | CA2665111489 | SCN5A | c.3961-23_3983del c.3964-23_3986del c.3802-23_3824del c.3835-23_3857del | gnomAD v4 |
| 3 | g.38560407C>A | CA352147600 | SCN5A | c.3982G>T (p.Gly1328Cys) c.3985G>T (p.Gly1329Cys) c.3823G>T (p.Gly1275Cys) c.3856G>T (p.Gly1286Cys) | |
| 3 | g.38560407C= | CA1358565772 | SCN5A | c.3982G= (p.Gly1328=) c.3985G= (p.Gly1329=) c.3823G= (p.Gly1275=) c.3856G= (p.Gly1286=) | |
| 3 | g.38560407C>G | CA352147602 | SCN5A | c.3982G>C (p.Gly1328Arg) c.3985G>C (p.Gly1329Arg) c.3823G>C (p.Gly1275Arg) c.3856G>C (p.Gly1286Arg) | |
| 3 | g.38560407C>T | CA017693 | SCN5A | c.3982G>A (p.Gly1328Ser) c.3985G>A (p.Gly1329Ser) c.3823G>A (p.Gly1275Ser) c.3856G>A (p.Gly1286Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38560408C>A | CA433332432 | SCN5A | c.3981G>T (p.Val1327=) c.3984G>T (p.Val1328=) c.3822G>T (p.Val1274=) c.3855G>T (p.Val1285=) | |
| 3 | g.38560408C= | CA1358565773 | SCN5A | c.3981G= (p.Val1327=) c.3984G= (p.Val1328=) c.3822G= (p.Val1274=) c.3855G= (p.Val1285=) | |
| 3 | g.38560408C>G | CA433332433 | SCN5A | c.3981G>C (p.Val1327=) c.3984G>C (p.Val1328=) c.3822G>C (p.Val1274=) c.3855G>C (p.Val1285=) | |
| 3 | g.38560408C>T | CA433332431 | SCN5A | c.3981G>A (p.Val1327=) c.3984G>A (p.Val1328=) c.3822G>A (p.Val1274=) c.3855G>A (p.Val1285=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38560409A= | CA1358565774 | SCN5A | c.3980T= (p.Val1327=) c.3983T= (p.Val1328=) c.3821T= (p.Val1274=) c.3854T= (p.Val1285=) | |
| 3 | g.38560409A>C | CA352147605 | SCN5A | c.3980T>G (p.Val1327Gly) c.3983T>G (p.Val1328Gly) c.3821T>G (p.Val1274Gly) c.3854T>G (p.Val1285Gly) | |
| 3 | g.38560409A>G | CA352147607 | SCN5A | c.3980T>C (p.Val1327Ala) c.3983T>C (p.Val1328Ala) c.3821T>C (p.Val1274Ala) c.3854T>C (p.Val1285Ala) | dbSNP gnomAD v4 |
| 3 | g.38560409A>T | CA352147608 | SCN5A | c.3980T>A (p.Val1327Glu) c.3983T>A (p.Val1328Glu) c.3821T>A (p.Val1274Glu) c.3854T>A (p.Val1285Glu) | COSMIC COSMIC COSMIC |
| 3 | g.38560410C>A | CA352147611 | SCN5A | c.3979G>T (p.Val1327Leu) c.3982G>T (p.Val1328Leu) c.3820G>T (p.Val1274Leu) c.3853G>T (p.Val1285Leu) | |
| 3 | g.38560410C= | CA1358565775 | SCN5A | c.3979G= (p.Val1327=) c.3982G= (p.Val1328=) c.3820G= (p.Val1274=) c.3853G= (p.Val1285=) | |
| 3 | g.38560410C>G | CA352147613 | SCN5A | c.3979G>C (p.Val1327Leu) c.3982G>C (p.Val1328Leu) c.3820G>C (p.Val1274Leu) c.3853G>C (p.Val1285Leu) | |
| 3 | g.38560410C>T | CA352147615 | SCN5A | c.3979G>A (p.Val1327Met) c.3982G>A (p.Val1328Met) c.3820G>A (p.Val1274Met) c.3853G>A (p.Val1285Met) | dbSNP gnomAD v4 |
| 3 | g.38560411C>A | CA433332437 | SCN5A | c.3978G>T (p.Leu1326=) c.3981G>T (p.Leu1327=) c.3819G>T (p.Leu1273=) c.3852G>T (p.Leu1284=) | ClinVar dbSNP |
| 3 | g.38560411C= | CA1358565776 | SCN5A | c.3978G= (p.Leu1326=) c.3981G= (p.Leu1327=) c.3819G= (p.Leu1273=) c.3852G= (p.Leu1284=) | |
| 3 | g.38560411C>G | CA433332435 | SCN5A | c.3978G>C (p.Leu1326=) c.3981G>C (p.Leu1327=) c.3819G>C (p.Leu1273=) c.3852G>C (p.Leu1284=) | |
| 3 | g.38560411C>T | CA433332436 | SCN5A | c.3978G>A (p.Leu1326=) c.3981G>A (p.Leu1327=) c.3819G>A (p.Leu1273=) c.3852G>A (p.Leu1284=) | ClinVar |
| 3 | g.38560412A>C | CA352147617 | SCN5A | c.3977T>G (p.Leu1326Arg) c.3980T>G (p.Leu1327Arg) c.3818T>G (p.Leu1273Arg) c.3851T>G (p.Leu1284Arg) | |
| 3 | g.38560412A>G | CA352147618 | SCN5A | c.3977T>C (p.Leu1326Pro) c.3980T>C (p.Leu1327Pro) c.3818T>C (p.Leu1273Pro) c.3851T>C (p.Leu1284Pro) | |
| 3 | g.38560412A>T | CA352147620 | SCN5A | c.3977T>A (p.Leu1326Gln) c.3980T>A (p.Leu1327Gln) c.3818T>A (p.Leu1273Gln) c.3851T>A (p.Leu1284Gln) | |
| 3 | g.38560413G>A | CA433332438 | SCN5A | c.3976C>T (p.Leu1326=) c.3979C>T (p.Leu1327=) c.3817C>T (p.Leu1273=) c.3850C>T (p.Leu1284=) | |
| 3 | g.38560413G>C | CA352147624 | SCN5A | c.3976C>G (p.Leu1326Val) c.3979C>G (p.Leu1327Val) c.3817C>G (p.Leu1273Val) c.3850C>G (p.Leu1284Val) | |
| 3 | g.38560413G>T | CA352147622 | SCN5A | c.3976C>A (p.Leu1326Met) c.3979C>A (p.Leu1327Met) c.3817C>A (p.Leu1273Met) c.3850C>A (p.Leu1284Met) | |
| 3 | g.38560414G>A | CA433332440 | SCN5A | c.3975C>T (p.Ala1325=) c.3978C>T (p.Ala1326=) c.3816C>T (p.Ala1272=) c.3849C>T (p.Ala1283=) | |
| 3 | g.38560414G>C | CA433332441 | SCN5A | c.3975C>G (p.Ala1325=) c.3978C>G (p.Ala1326=) c.3816C>G (p.Ala1272=) c.3849C>G (p.Ala1283=) | |
| 3 | g.38560414G>T | CA433332439 | SCN5A | c.3975C>A (p.Ala1325=) c.3978C>A (p.Ala1326=) c.3816C>A (p.Ala1272=) c.3849C>A (p.Ala1283=) | |
| 3 | g.38560415G>A | CA352147625 | SCN5A | c.3974C>T (p.Ala1325Val) c.3977C>T (p.Ala1326Val) c.3815C>T (p.Ala1272Val) c.3848C>T (p.Ala1283Val) | |
| 3 | g.38560415G>C | CA352147626 | SCN5A | c.3974C>G (p.Ala1325Gly) c.3977C>G (p.Ala1326Gly) c.3815C>G (p.Ala1272Gly) c.3848C>G (p.Ala1283Gly) | |
| 3 | g.38560415G>T | CA352147627 | SCN5A | c.3974C>A (p.Ala1325Asp) c.3977C>A (p.Ala1326Asp) c.3815C>A (p.Ala1272Asp) c.3848C>A (p.Ala1283Asp) | ClinVar |
| 3 | g.38560416C>A | CA017686 | SCN5A | c.3973G>T (p.Ala1325Ser) c.3976G>T (p.Ala1326Ser) c.3814G>T (p.Ala1272Ser) c.3847G>T (p.Ala1283Ser) | ClinVar dbSNP |
| 3 | g.38560416C= | CA1358565777 | SCN5A | c.3973G= (p.Ala1325=) c.3976G= (p.Ala1326=) c.3814G= (p.Ala1272=) c.3847G= (p.Ala1283=) | |
| 3 | g.38560416C>G | CA352147628 | SCN5A | c.3973G>C (p.Ala1325Pro) c.3976G>C (p.Ala1326Pro) c.3814G>C (p.Ala1272Pro) c.3847G>C (p.Ala1283Pro) | |
| 3 | g.38560416C>T | CA352147629 | SCN5A | c.3973G>A (p.Ala1325Thr) c.3976G>A (p.Ala1326Thr) c.3814G>A (p.Ala1272Thr) c.3847G>A (p.Ala1283Thr) | |
| 3 | g.38560417A>C | CA352147631 | SCN5A | c.3972T>G (p.Asn1324Lys) c.3975T>G (p.Asn1325Lys) c.3813T>G (p.Asn1271Lys) c.3846T>G (p.Asn1282Lys) | ClinVar dbSNP |
| 3 | g.38560417A>G | CA433332449 | SCN5A | c.3972T>C (p.Asn1324=) c.3975T>C (p.Asn1325=) c.3813T>C (p.Asn1271=) c.3846T>C (p.Asn1282=) | gnomAD v4 |