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.38560249_38560252delinsCTTG | CA1358565691 | SCN5A | c.4137_4140delinsCAAG (p.Asn1379=) c.4140_4143delinsCAAG (p.Asn1380=) c.3978_3981delinsCAAG (p.Asn1326=) c.4011_4014delinsCAAG (p.Asn1337=) | |
| 3 | g.38560255_38560257del | CA017894 | SCN5A | c.4137_4139del (p.Asn1379del) c.4140_4142del (p.Asn1380del) c.3978_3980del (p.Asn1326del) c.4011_4013del (p.Asn1337del) | ClinVar dbSNP |
| 3 | g.38560252G>A | CA433332380 | SCN5A | c.4137C>T (p.Asn1379=) c.4140C>T (p.Asn1380=) c.3978C>T (p.Asn1326=) c.4011C>T (p.Asn1337=) | |
| 3 | g.38560252G>C | CA017900 | SCN5A | c.4137C>G (p.Asn1379Lys) c.4140C>G (p.Asn1380Lys) c.3978C>G (p.Asn1326Lys) c.4011C>G (p.Asn1337Lys) | ClinVar dbSNP |
| 3 | g.38560252G= | CA1358565694 | SCN5A | c.4137C= (p.Asn1379=) c.4140C= (p.Asn1380=) c.3978C= (p.Asn1326=) c.4011C= (p.Asn1337=) | |
| 3 | g.38560252G>T | CA352146767 | SCN5A | c.4137C>A (p.Asn1379Lys) c.4140C>A (p.Asn1380Lys) c.3978C>A (p.Asn1326Lys) c.4011C>A (p.Asn1337Lys) | |
| 3 | g.38560253T>A | CA352146770 | SCN5A | c.4136A>T (p.Asn1379Ile) c.4139A>T (p.Asn1380Ile) c.3977A>T (p.Asn1326Ile) c.4010A>T (p.Asn1337Ile) | |
| 3 | g.38560253T>C | CA352146771 | SCN5A | c.4136A>G (p.Asn1379Ser) c.4139A>G (p.Asn1380Ser) c.3977A>G (p.Asn1326Ser) c.4010A>G (p.Asn1337Ser) | |
| 3 | g.38560253T>G | CA352146773 | SCN5A | c.4136A>C (p.Asn1379Thr) c.4139A>C (p.Asn1380Thr) c.3977A>C (p.Asn1326Thr) c.4010A>C (p.Asn1337Thr) | |
| 3 | g.38560254T>A | CA352146776 | SCN5A | c.4135A>T (p.Asn1379Tyr) c.4138A>T (p.Asn1380Tyr) c.3976A>T (p.Asn1326Tyr) c.4009A>T (p.Asn1337Tyr) | |
| 3 | g.38560254T>C | CA352146778 | SCN5A | c.4135A>G (p.Asn1379Asp) c.4138A>G (p.Asn1380Asp) c.3976A>G (p.Asn1326Asp) c.4009A>G (p.Asn1337Asp) | |
| 3 | g.38560254T>G | CA352146780 | SCN5A | c.4135A>C (p.Asn1379His) c.4138A>C (p.Asn1380His) c.3976A>C (p.Asn1326His) c.4009A>C (p.Asn1337His) | |
| 3 | g.38560255G>A | CA433332382 | SCN5A | c.4134C>T (p.Asn1378=) c.4137C>T (p.Asn1379=) c.3975C>T (p.Asn1325=) c.4008C>T (p.Asn1336=) | |
| 3 | g.38560255G>C | CA352146783 | SCN5A | c.4134C>G (p.Asn1378Lys) c.4137C>G (p.Asn1379Lys) c.3975C>G (p.Asn1325Lys) c.4008C>G (p.Asn1336Lys) | |
| 3 | g.38560255G>T | CA352146785 | SCN5A | c.4134C>A (p.Asn1378Lys) c.4137C>A (p.Asn1379Lys) c.3975C>A (p.Asn1325Lys) c.4008C>A (p.Asn1336Lys) | |
| 3 | g.38560256T>A | CA352146791 | SCN5A | c.4133A>T (p.Asn1378Ile) c.4136A>T (p.Asn1379Ile) c.3974A>T (p.Asn1325Ile) c.4007A>T (p.Asn1336Ile) | |
| 3 | g.38560256T>C | CA352146789 | SCN5A | c.4133A>G (p.Asn1378Ser) c.4136A>G (p.Asn1379Ser) c.3974A>G (p.Asn1325Ser) c.4007A>G (p.Asn1336Ser) | ClinVar dbSNP |
| 3 | g.38560256T>G | CA352146787 | SCN5A | c.4133A>C (p.Asn1378Thr) c.4136A>C (p.Asn1379Thr) c.3974A>C (p.Asn1325Thr) c.4007A>C (p.Asn1336Thr) | |
| 3 | g.38560256T= | CA1358565695 | SCN5A | c.4133A= (p.Asn1378=) c.4136A= (p.Asn1379=) c.3974A= (p.Asn1325=) c.4007A= (p.Asn1336=) | |
| 3 | g.38560257T>A | CA352146793 | SCN5A | c.4132A>T (p.Asn1378Tyr) c.4135A>T (p.Asn1379Tyr) c.3973A>T (p.Asn1325Tyr) c.4006A>T (p.Asn1336Tyr) | gnomAD v4 |
| 3 | g.38560257T>C | CA352146795 | SCN5A | c.4132A>G (p.Asn1378Asp) c.4135A>G (p.Asn1379Asp) c.3973A>G (p.Asn1325Asp) c.4006A>G (p.Asn1336Asp) | |
| 3 | g.38560257T>G | CA352146798 | SCN5A | c.4132A>C (p.Asn1378His) c.4135A>C (p.Asn1379His) c.3973A>C (p.Asn1325His) c.4006A>C (p.Asn1336His) | |
| 3 | g.38560258C>A | CA433332383 | SCN5A | c.4131G>T (p.Val1377=) c.4134G>T (p.Val1378=) c.3972G>T (p.Val1324=) c.4005G>T (p.Val1335=) | |
| 3 | g.38560258C= | CA1358565696 | SCN5A | c.4131G= (p.Val1377=) c.4134G= (p.Val1378=) c.3972G= (p.Val1324=) c.4005G= (p.Val1335=) | |
| 3 | g.38560258C>G | CA433332384 | SCN5A | c.4131G>C (p.Val1377=) c.4134G>C (p.Val1378=) c.3972G>C (p.Val1324=) c.4005G>C (p.Val1335=) | |
| 3 | g.38560258C>T | CA72944778 | SCN5A | c.4131G>A (p.Val1377=) c.4134G>A (p.Val1378=) c.3972G>A (p.Val1324=) c.4005G>A (p.Val1335=) | dbSNP COSMIC |
| 3 | g.38560259A>C | CA352146803 | SCN5A | c.4130T>G (p.Val1377Gly) c.4133T>G (p.Val1378Gly) c.3971T>G (p.Val1324Gly) c.4004T>G (p.Val1335Gly) | |
| 3 | g.38560259A>G | CA352146805 | SCN5A | c.4130T>C (p.Val1377Ala) c.4133T>C (p.Val1378Ala) c.3971T>C (p.Val1324Ala) c.4004T>C (p.Val1335Ala) | |
| 3 | g.38560259A>T | CA352146808 | SCN5A | c.4130T>A (p.Val1377Glu) c.4133T>A (p.Val1378Glu) c.3971T>A (p.Val1324Glu) c.4004T>A (p.Val1335Glu) | |
| 3 | g.38560260C>A | CA352146811 | SCN5A | c.4129G>T (p.Val1377Leu) c.4132G>T (p.Val1378Leu) c.3970G>T (p.Val1324Leu) c.4003G>T (p.Val1335Leu) | dbSNP |
| 3 | g.38560260C= | CA1358565697 | SCN5A | c.4129G= (p.Val1377=) c.4132G= (p.Val1378=) c.3970G= (p.Val1324=) c.4003G= (p.Val1335=) | |
| 3 | g.38560260C>G | CA352146814 | SCN5A | c.4129G>C (p.Val1377Leu) c.4132G>C (p.Val1378Leu) c.3970G>C (p.Val1324Leu) c.4003G>C (p.Val1335Leu) | |
| 3 | g.38560260C>T | CA062884 | SCN5A | c.4129G>A (p.Val1377Met) c.4132G>A (p.Val1378Met) c.3970G>A (p.Val1324Met) c.4003G>A (p.Val1335Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560261G>A | CA062875 | SCN5A | c.4128C>T (p.Ile1376=) c.4131C>T (p.Ile1377=) c.3969C>T (p.Ile1323=) c.4002C>T (p.Ile1334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38560261G>C | CA062867 | SCN5A | c.4128C>G (p.Ile1376Met) c.4131C>G (p.Ile1377Met) c.3969C>G (p.Ile1323Met) c.4002C>G (p.Ile1334Met) | dbSNP ExAC gnomAD v2 |
| 3 | g.38560261G= | CA1358565698 | SCN5A | c.4128C= (p.Ile1376=) c.4131C= (p.Ile1377=) c.3969C= (p.Ile1323=) c.4002C= (p.Ile1334=) | |
| 3 | g.38560261G>T | CA433332386 | SCN5A | c.4128C>A (p.Ile1376=) c.4131C>A (p.Ile1377=) c.3969C>A (p.Ile1323=) c.4002C>A (p.Ile1334=) | COSMIC COSMIC COSMIC |
| 3 | g.38560262A>C | CA352146825 | SCN5A | c.4127T>G (p.Ile1376Ser) c.4130T>G (p.Ile1377Ser) c.3968T>G (p.Ile1323Ser) c.4001T>G (p.Ile1334Ser) | |
| 3 | g.38560262A>G | CA352146828 | SCN5A | c.4127T>C (p.Ile1376Thr) c.4130T>C (p.Ile1377Thr) c.3968T>C (p.Ile1323Thr) c.4001T>C (p.Ile1334Thr) | |
| 3 | g.38560262A>T | CA352146822 | SCN5A | c.4127T>A (p.Ile1376Asn) c.4130T>A (p.Ile1377Asn) c.3968T>A (p.Ile1323Asn) c.4001T>A (p.Ile1334Asn) | |
| 3 | g.38560263T>A | CA352146832 | SCN5A | c.4126A>T (p.Ile1376Phe) c.4129A>T (p.Ile1377Phe) c.3967A>T (p.Ile1323Phe) c.4000A>T (p.Ile1334Phe) | |
| 3 | g.38560263T>C | CA352146835 | SCN5A | c.4126A>G (p.Ile1376Val) c.4129A>G (p.Ile1377Val) c.3967A>G (p.Ile1323Val) c.4000A>G (p.Ile1334Val) | gnomAD v4 |
| 3 | g.38560263T>G | CA352146836 | SCN5A | c.4126A>C (p.Ile1376Leu) c.4129A>C (p.Ile1377Leu) c.3967A>C (p.Ile1323Leu) c.4000A>C (p.Ile1334Leu) | |
| 3 | g.38560264G>A | CA433332387 | SCN5A | c.4125C>T (p.Thr1375=) c.4128C>T (p.Thr1376=) c.3966C>T (p.Thr1322=) c.3999C>T (p.Thr1333=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38560264G>C | CA433332389 | SCN5A | c.4125C>G (p.Thr1375=) c.4128C>G (p.Thr1376=) c.3966C>G (p.Thr1322=) c.3999C>G (p.Thr1333=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560264G= | CA1358565699 | SCN5A | c.4125C= (p.Thr1375=) c.4128C= (p.Thr1376=) c.3966C= (p.Thr1322=) c.3999C= (p.Thr1333=) | |
| 3 | g.38560264G>T | CA433332390 | SCN5A | c.4125C>A (p.Thr1375=) c.4128C>A (p.Thr1376=) c.3966C>A (p.Thr1322=) c.3999C>A (p.Thr1333=) | |
| 3 | g.38560265G>A | CA352146837 | SCN5A | c.4124C>T (p.Thr1375Ile) c.4127C>T (p.Thr1376Ile) c.3965C>T (p.Thr1322Ile) c.3998C>T (p.Thr1333Ile) | |
| 3 | g.38560265G>C | CA352146838 | SCN5A | c.4124C>G (p.Thr1375Ser) c.4127C>G (p.Thr1376Ser) c.3965C>G (p.Thr1322Ser) c.3998C>G (p.Thr1333Ser) | |
| 3 | g.38560265G>T | CA352146839 | SCN5A | c.4124C>A (p.Thr1375Asn) c.4127C>A (p.Thr1376Asn) c.3965C>A (p.Thr1322Asn) c.3998C>A (p.Thr1333Asn) |