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.38597852C>A | CA433333079 | SCN5A | c.2139G>T (p.Val713=) c.2010G>T (p.Val670=) | gnomAD v4 |
| 3 | g.38597852C>G | CA433333080 | SCN5A | c.2139G>C (p.Val713=) c.2010G>C (p.Val670=) | |
| 3 | g.38597852C>T | CA433333081 | SCN5A | c.2139G>A (p.Val713=) c.2010G>A (p.Val670=) | |
| 3 | g.38597853A>C | CA352144686 | SCN5A | c.2138T>G (p.Val713Gly) c.2009T>G (p.Val670Gly) | |
| 3 | g.38597853A>G | CA352144687 | SCN5A | c.2138T>C (p.Val713Ala) c.2009T>C (p.Val670Ala) | COSMIC COSMIC COSMIC |
| 3 | g.38597853A>T | CA352144688 | SCN5A | c.2138T>A (p.Val713Glu) c.2009T>A (p.Val670Glu) | |
| 3 | g.38597854C>A | CA352144689 | SCN5A | c.2137G>T (p.Val713Leu) c.2008G>T (p.Val670Leu) | |
| 3 | g.38597854C>G | CA352144690 | SCN5A | c.2137G>C (p.Val713Leu) c.2008G>C (p.Val670Leu) | |
| 3 | g.38597854C>T | CA352144691 | SCN5A | c.2137G>A (p.Val713Met) c.2008G>A (p.Val670Met) | |
| 3 | g.38597855C>A | CA352144692 | SCN5A | c.2136G>T (p.Leu712Phe) c.2007G>T (p.Leu669Phe) | |
| 3 | g.38597855C>G | CA352144693 | SCN5A | c.2136G>C (p.Leu712Phe) c.2007G>C (p.Leu669Phe) | |
| 3 | g.38597855C>T | CA433333089 | SCN5A | c.2136G>A (p.Leu712=) c.2007G>A (p.Leu669=) | ClinVar gnomAD v4 |
| 3 | g.38597856A= | CA1358584123 | SCN5A | c.2135T= (p.Leu712=) c.2006T= (p.Leu669=) | |
| 3 | g.38597856A>C | CA352144694 | SCN5A | c.2135T>G (p.Leu712Trp) c.2006T>G (p.Leu669Trp) | |
| 3 | g.38597856A>G | CA352144695 | SCN5A | c.2135T>C (p.Leu712Ser) c.2006T>C (p.Leu669Ser) | |
| 3 | g.38597856A>T | CA352144696 | SCN5A | c.2135T>A (p.Leu712Ter) c.2006T>A (p.Leu669Ter) | dbSNP |
| 3 | g.38597857A>C | CA352144697 | SCN5A | c.2134T>G (p.Leu712Val) c.2005T>G (p.Leu669Val) | ClinVar |
| 3 | g.38597857A>G | CA433333093 | SCN5A | c.2134T>C (p.Leu712=) c.2005T>C (p.Leu669=) | gnomAD v4 |
| 3 | g.38597857A>T | CA352144698 | SCN5A | c.2134T>A (p.Leu712Met) c.2005T>A (p.Leu669Met) | |
| 3 | g.38597858C>A | CA352144699 | SCN5A | c.2133G>T (p.Lys711Asn) c.2004G>T (p.Lys668Asn) | |
| 3 | g.38597858C>G | CA352144700 | SCN5A | c.2133G>C (p.Lys711Asn) c.2004G>C (p.Lys668Asn) | |
| 3 | g.38597858C>T | CA433333094 | SCN5A | c.2133G>A (p.Lys711=) c.2004G>A (p.Lys668=) | |
| 3 | g.38597859T>A | CA352144701 | SCN5A | c.2132A>T (p.Lys711Met) c.2003A>T (p.Lys668Met) | |
| 3 | g.38597859T>C | CA352144703 | SCN5A | c.2132A>G (p.Lys711Arg) c.2003A>G (p.Lys668Arg) | ClinVar |
| 3 | g.38597859T>G | CA352144702 | SCN5A | c.2132A>C (p.Lys711Thr) c.2003A>C (p.Lys668Thr) | |
| 3 | g.38597860T>A | CA352144704 | SCN5A | c.2131A>T (p.Lys711Ter) c.2002A>T (p.Lys668Ter) | dbSNP |
| 3 | g.38597860T>C | CA352144706 | SCN5A | c.2131A>G (p.Lys711Glu) c.2002A>G (p.Lys668Glu) | |
| 3 | g.38597860T>G | CA352144705 | SCN5A | c.2131A>C (p.Lys711Gln) c.2002A>C (p.Lys668Gln) | |
| 3 | g.38597860T= | CA1358584126 | SCN5A | c.2131A= (p.Lys711=) c.2002A= (p.Lys668=) | |
| 3 | g.38597861C>A | CA433333100 | SCN5A | c.2130G>T (p.Val710=) c.2001G>T (p.Val667=) | |
| 3 | g.38597861C= | CA1358584128 | SCN5A | c.2130G= (p.Val710=) c.2001G= (p.Val667=) | |
| 3 | g.38597861C>G | CA433333101 | SCN5A | c.2130G>C (p.Val710=) c.2001G>C (p.Val667=) | |
| 3 | g.38597861C>T | CA72932572 | SCN5A | c.2130G>A (p.Val710=) c.2001G>A (p.Val667=) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38597862A>C | CA352144708 | SCN5A | c.2129T>G (p.Val710Gly) c.2000T>G (p.Val667Gly) | gnomAD v4 |
| 3 | g.38597862A>G | CA352144707 | SCN5A | c.2129T>C (p.Val710Ala) c.2000T>C (p.Val667Ala) | ClinVar |
| 3 | g.38597862A>T | CA352144709 | SCN5A | c.2129T>A (p.Val710Glu) c.2000T>A (p.Val667Glu) | |
| 3 | g.38597863C>A | CA352144710 | SCN5A | c.2128G>T (p.Val710Leu) c.1999G>T (p.Val667Leu) | |
| 3 | g.38597863C>G | CA352144711 | SCN5A | c.2128G>C (p.Val710Leu) c.1999G>C (p.Val667Leu) | |
| 3 | g.38597863C>T | CA352144712 | SCN5A | c.2128G>A (p.Val710Met) c.1999G>A (p.Val667Met) | gnomAD v4 |
| 3 | g.38597864T>A | CA433333110 | SCN5A | c.2127A>T (p.Gly709=) c.1998A>T (p.Gly666=) | |
| 3 | g.38597864T>C | CA433333108 | SCN5A | c.2127A>G (p.Gly709=) c.1998A>G (p.Gly666=) | gnomAD v4 |
| 3 | g.38597864T>G | CA433333109 | SCN5A | c.2127A>C (p.Gly709=) c.1998A>C (p.Gly666=) | |
| 3 | g.38597865C>A | CA015873 | SCN5A | c.2126G>T (p.Gly709Val) c.1997G>T (p.Gly666Val) | ClinVar dbSNP |
| 3 | g.38597865C= | CA1358584132 | SCN5A | c.2126G= (p.Gly709=) c.1997G= (p.Gly666=) | |
| 3 | g.38597865C>G | CA352144713 | SCN5A | c.2126G>C (p.Gly709Ala) c.1997G>C (p.Gly666Ala) | |
| 3 | g.38597865C>T | CA352144714 | SCN5A | c.2126G>A (p.Gly709Glu) c.1997G>A (p.Gly666Glu) | gnomAD v4 |
| 3 | g.38597866C>A | CA352144715 | SCN5A | c.2125G>T (p.Gly709Ter) c.1996G>T (p.Gly666Ter) | dbSNP |
| 3 | g.38597866C= | CA1358584135 | SCN5A | c.2125G= (p.Gly709=) c.1996G= (p.Gly666=) | |
| 3 | g.38597866C>G | CA352144716 | SCN5A | c.2125G>C (p.Gly709Arg) c.1996G>C (p.Gly666Arg) | |
| 3 | g.38597866C>T | CA352144717 | SCN5A | c.2125G>A (p.Gly709Arg) c.1996G>A (p.Gly666Arg) |