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.38579433C>A | CA352138794 | SCN5A | c.3288G>T (p.Gln1096His) c.3291G>T (p.Gln1097His) c.3228+1498G>T (n.3228+1498G>T) c.3162G>T (p.Gln1054His) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38579433C= | CA1358574513 | SCN5A | c.3288G= (p.Gln1096=) c.3291G= (p.Gln1097=) c.3228+1498G= (n.3228+1498G=) c.3162G= (p.Gln1054=) | |
| 3 | g.38579433C>G | CA352138795 | SCN5A | c.3288G>C (p.Gln1096His) c.3291G>C (p.Gln1097His) c.3228+1498G>C (n.3228+1498G>C) c.3162G>C (p.Gln1054His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38579433C>T | CA433134439 | SCN5A | c.3288G>A (p.Gln1096=) c.3291G>A (p.Gln1097=) c.3228+1498G>A (n.3228+1498G>A) c.3162G>A (p.Gln1054=) | gnomAD v4 |
| 3 | g.38579434T>A | CA352138796 | SCN5A | c.3287A>T (p.Gln1096Leu) c.3290A>T (p.Gln1097Leu) c.3228+1497A>T (n.3228+1497A>T) c.3161A>T (p.Gln1054Leu) | |
| 3 | g.38579434T>C | CA352138797 | SCN5A | c.3287A>G (p.Gln1096Arg) c.3290A>G (p.Gln1097Arg) c.3228+1497A>G (n.3228+1497A>G) c.3161A>G (p.Gln1054Arg) | gnomAD v4 |
| 3 | g.38579434T>G | CA352138798 | SCN5A | c.3287A>C (p.Gln1096Pro) c.3290A>C (p.Gln1097Pro) c.3228+1497A>C (n.3228+1497A>C) c.3161A>C (p.Gln1054Pro) | |
| 3 | g.38579435G>A | CA352138801 | SCN5A | c.3286C>T (p.Gln1096Ter) c.3289C>T (p.Gln1097Ter) c.3228+1496C>T (n.3228+1496C>T) c.3160C>T (p.Gln1054Ter) | |
| 3 | g.38579435G>C | CA352138800 | SCN5A | c.3286C>G (p.Gln1096Glu) c.3289C>G (p.Gln1097Glu) c.3228+1496C>G (n.3228+1496C>G) c.3160C>G (p.Gln1054Glu) | |
| 3 | g.38579435G>T | CA352138799 | SCN5A | c.3286C>A (p.Gln1096Lys) c.3289C>A (p.Gln1097Lys) c.3228+1496C>A (n.3228+1496C>A) c.3160C>A (p.Gln1054Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38579436G>A | CA433134440 | SCN5A | c.3285C>T (p.Ser1095=) c.3288C>T (p.Ser1096=) c.3228+1495C>T (n.3228+1495C>T) c.3159C>T (p.Ser1053=) | |
| 3 | g.38579436G>C | CA352138802 | SCN5A | c.3285C>G (p.Ser1095Arg) c.3288C>G (p.Ser1096Arg) c.3228+1495C>G (n.3228+1495C>G) c.3159C>G (p.Ser1053Arg) | |
| 3 | g.38579436G>T | CA352138803 | SCN5A | c.3285C>A (p.Ser1095Arg) c.3288C>A (p.Ser1096Arg) c.3228+1495C>A (n.3228+1495C>A) c.3159C>A (p.Ser1053Arg) | |
| 3 | g.38579437C>A | CA352138804 | SCN5A | c.3284G>T (p.Ser1095Ile) c.3287G>T (p.Ser1096Ile) c.3228+1494G>T (n.3228+1494G>T) c.3158G>T (p.Ser1053Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38579437C= | CA1358574515 | SCN5A | c.3284G= (p.Ser1095=) c.3287G= (p.Ser1096=) c.3228+1494G= (n.3228+1494G=) c.3158G= (p.Ser1053=) | |
| 3 | g.38579437C>G | CA352138805 | SCN5A | c.3284G>C (p.Ser1095Thr) c.3287G>C (p.Ser1096Thr) c.3228+1494G>C (n.3228+1494G>C) c.3158G>C (p.Ser1053Thr) | |
| 3 | g.38579437C>T | CA352138806 | SCN5A | c.3284G>A (p.Ser1095Asn) c.3287G>A (p.Ser1096Asn) c.3228+1494G>A (n.3228+1494G>A) c.3158G>A (p.Ser1053Asn) | |
| 3 | g.38579438T>A | CA352138809 | SCN5A | c.3283A>T (p.Ser1095Cys) c.3286A>T (p.Ser1096Cys) c.3228+1493A>T (n.3228+1493A>T) c.3157A>T (p.Ser1053Cys) | dbSNP gnomAD v2 |
| 3 | g.38579438T>C | CA352138808 | SCN5A | c.3283A>G (p.Ser1095Gly) c.3286A>G (p.Ser1096Gly) c.3228+1493A>G (n.3228+1493A>G) c.3157A>G (p.Ser1053Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38579438T>G | CA352138807 | SCN5A | c.3283A>C (p.Ser1095Arg) c.3286A>C (p.Ser1096Arg) c.3228+1493A>C (n.3228+1493A>C) c.3157A>C (p.Ser1053Arg) | |
| 3 | g.38579438T= | CA1358574516 | SCN5A | c.3283A= (p.Ser1095=) c.3286A= (p.Ser1096=) c.3228+1493A= (n.3228+1493A=) c.3157A= (p.Ser1053=) | |
| 3 | g.38579439C>A | CA061553 | SCN5A | c.3282G>T (p.Trp1094Cys) c.3285G>T (p.Trp1095Cys) c.3228+1492G>T (n.3228+1492G>T) c.3156G>T (p.Trp1052Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38579439C= | CA1358574518 | SCN5A | c.3282G= (p.Trp1094=) c.3285G= (p.Trp1095=) c.3228+1492G= (n.3228+1492G=) c.3156G= (p.Trp1052=) | |
| 3 | g.38579439C>G | CA352138810 | SCN5A | c.3282G>C (p.Trp1094Cys) c.3285G>C (p.Trp1095Cys) c.3228+1492G>C (n.3228+1492G>C) c.3156G>C (p.Trp1052Cys) | ClinVar dbSNP |
| 3 | g.38579439C>T | CA16611385 | SCN5A | c.3282G>A (p.Trp1094Ter) c.3285G>A (p.Trp1095Ter) c.3228+1492G>A (n.3228+1492G>A) c.3156G>A (p.Trp1052Ter) | ClinVar dbSNP |
| 3 | g.38579440C>A | CA352138811 | SCN5A | c.3281G>T (p.Trp1094Leu) c.3284G>T (p.Trp1095Leu) c.3228+1491G>T (n.3228+1491G>T) c.3155G>T (p.Trp1052Leu) | |
| 3 | g.38579440C>G | CA352138812 | SCN5A | c.3281G>C (p.Trp1094Ser) c.3284G>C (p.Trp1095Ser) c.3228+1491G>C (n.3228+1491G>C) c.3155G>C (p.Trp1052Ser) | |
| 3 | g.38579440C>T | CA352138813 | SCN5A | c.3281G>A (p.Trp1094Ter) c.3284G>A (p.Trp1095Ter) c.3228+1491G>A (n.3228+1491G>A) c.3155G>A (p.Trp1052Ter) | ClinVar |
| 3 | g.38579441A>C | CA352138814 | SCN5A | c.3280T>G (p.Trp1094Gly) c.3283T>G (p.Trp1095Gly) c.3228+1490T>G (n.3228+1490T>G) c.3154T>G (p.Trp1052Gly) | |
| 3 | g.38579441A>G | CA352138816 | SCN5A | c.3280T>C (p.Trp1094Arg) c.3283T>C (p.Trp1095Arg) c.3228+1490T>C (n.3228+1490T>C) c.3154T>C (p.Trp1052Arg) | |
| 3 | g.38579441A>T | CA352138815 | SCN5A | c.3280T>A (p.Trp1094Arg) c.3283T>A (p.Trp1095Arg) c.3228+1490T>A (n.3228+1490T>A) c.3154T>A (p.Trp1052Arg) | |
| 3 | g.38579442G>A | CA433134442 | SCN5A | c.3279C>T (p.Thr1093=) c.3282C>T (p.Thr1094=) c.3228+1489C>T (n.3228+1489C>T) c.3153C>T (p.Thr1051=) | |
| 3 | g.38579442G>C | CA433134443 | SCN5A | c.3279C>G (p.Thr1093=) c.3282C>G (p.Thr1094=) c.3228+1489C>G (n.3228+1489C>G) c.3153C>G (p.Thr1051=) | gnomAD v4 |
| 3 | g.38579442G>T | CA433134444 | SCN5A | c.3279C>A (p.Thr1093=) c.3282C>A (p.Thr1094=) c.3228+1489C>A (n.3228+1489C>A) c.3153C>A (p.Thr1051=) | |
| 3 | g.38579443G>A | CA352138817 | SCN5A | c.3278C>T (p.Thr1093Ile) c.3281C>T (p.Thr1094Ile) c.3228+1488C>T (n.3228+1488C>T) c.3152C>T (p.Thr1051Ile) | |
| 3 | g.38579443G>C | CA352138818 | SCN5A | c.3278C>G (p.Thr1093Ser) c.3281C>G (p.Thr1094Ser) c.3228+1488C>G (n.3228+1488C>G) c.3152C>G (p.Thr1051Ser) | gnomAD v4 |
| 3 | g.38579443G>T | CA352138819 | SCN5A | c.3278C>A (p.Thr1093Asn) c.3281C>A (p.Thr1094Asn) c.3228+1488C>A (n.3228+1488C>A) c.3152C>A (p.Thr1051Asn) | |
| 3 | g.38579444T>A | CA352138820 | SCN5A | c.3277A>T (p.Thr1093Ser) c.3280A>T (p.Thr1094Ser) c.3228+1487A>T (n.3228+1487A>T) c.3151A>T (p.Thr1051Ser) | |
| 3 | g.38579444T>C | CA352138821 | SCN5A | c.3277A>G (p.Thr1093Ala) c.3280A>G (p.Thr1094Ala) c.3228+1487A>G (n.3228+1487A>G) c.3151A>G (p.Thr1051Ala) | |
| 3 | g.38579444T>G | CA352138822 | SCN5A | c.3277A>C (p.Thr1093Pro) c.3280A>C (p.Thr1094Pro) c.3228+1487A>C (n.3228+1487A>C) c.3151A>C (p.Thr1051Pro) | |
| 3 | g.38579445C>A | CA352138823 | SCN5A | c.3276G>T (p.Arg1092Ser) c.3279G>T (p.Arg1093Ser) c.3228+1486G>T (n.3228+1486G>T) c.3150G>T (p.Arg1050Ser) | dbSNP gnomAD v2 |
| 3 | g.38579445C= | CA1358574521 | SCN5A | c.3276G= (p.Arg1092=) c.3279G= (p.Arg1093=) c.3228+1486G= (n.3228+1486G=) c.3150G= (p.Arg1050=) | |
| 3 | g.38579445C>G | CA352138824 | SCN5A | c.3276G>C (p.Arg1092Ser) c.3279G>C (p.Arg1093Ser) c.3228+1486G>C (n.3228+1486G>C) c.3150G>C (p.Arg1050Ser) | |
| 3 | g.38579445C>T | CA433134445 | SCN5A | c.3276G>A (p.Arg1092=) c.3279G>A (p.Arg1093=) c.3228+1486G>A (n.3228+1486G>A) c.3150G>A (p.Arg1050=) | |
| 3 | g.38579446C>A | CA352138825 | SCN5A | c.3275G>T (p.Arg1092Met) c.3278G>T (p.Arg1093Met) c.3228+1485G>T (n.3228+1485G>T) c.3149G>T (p.Arg1050Met) | |
| 3 | g.38579446C>G | CA352138826 | SCN5A | c.3275G>C (p.Arg1092Thr) c.3278G>C (p.Arg1093Thr) c.3228+1485G>C (n.3228+1485G>C) c.3149G>C (p.Arg1050Thr) | |
| 3 | g.38579446C>T | CA352138827 | SCN5A | c.3275G>A (p.Arg1092Lys) c.3278G>A (p.Arg1093Lys) c.3228+1485G>A (n.3228+1485G>A) c.3149G>A (p.Arg1050Lys) | gnomAD v4 |
| 3 | g.38579447T>A | CA352138828 | SCN5A | c.3274A>T (p.Arg1092Trp) c.3277A>T (p.Arg1093Trp) c.3228+1484A>T (n.3228+1484A>T) c.3148A>T (p.Arg1050Trp) | |
| 3 | g.38579447T>C | CA352138829 | SCN5A | c.3274A>G (p.Arg1092Gly) c.3277A>G (p.Arg1093Gly) c.3228+1484A>G (n.3228+1484A>G) c.3148A>G (p.Arg1050Gly) | gnomAD v4 |
| 3 | g.38579447T>G | CA433134446 | SCN5A | c.3274A>C (p.Arg1092=) c.3277A>C (p.Arg1093=) c.3228+1484A>C (n.3228+1484A>C) c.3148A>C (p.Arg1050=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |