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.38555731C>A | CA018302 | SCN5A | c.4464G>T (p.Glu1488Asp) c.4467G>T (p.Glu1489Asp) c.4413G>T (p.Glu1471Asp) c.4305G>T (p.Glu1435Asp) c.4338G>T (p.Glu1446Asp) c.4410G>T (p.Glu1470Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38555731C= | CA1358562989 | SCN5A | c.4464G= (p.Glu1488=) c.4467G= (p.Glu1489=) c.4413G= (p.Glu1471=) c.4305G= (p.Glu1435=) c.4338G= (p.Glu1446=) c.4410G= (p.Glu1470=) | |
| 3 | g.38555731C>G | CA352144341 | SCN5A | c.4464G>C (p.Glu1488Asp) c.4467G>C (p.Glu1489Asp) c.4413G>C (p.Glu1471Asp) c.4305G>C (p.Glu1435Asp) c.4338G>C (p.Glu1446Asp) c.4410G>C (p.Glu1470Asp) | |
| 3 | g.38555731C>T | CA433135807 | SCN5A | c.4464G>A (p.Glu1488=) c.4467G>A (p.Glu1489=) c.4413G>A (p.Glu1471=) c.4305G>A (p.Glu1435=) c.4338G>A (p.Glu1446=) c.4410G>A (p.Glu1470=) | |
| 3 | g.38555732T>A | CA352144342 | SCN5A | c.4463A>T (p.Glu1488Val) c.4466A>T (p.Glu1489Val) c.4412A>T (p.Glu1471Val) c.4304A>T (p.Glu1435Val) c.4337A>T (p.Glu1446Val) c.4409A>T (p.Glu1470Val) | |
| 3 | g.38555732T>C | CA352144344 | SCN5A | c.4463A>G (p.Glu1488Gly) c.4466A>G (p.Glu1489Gly) c.4412A>G (p.Glu1471Gly) c.4304A>G (p.Glu1435Gly) c.4337A>G (p.Glu1446Gly) c.4409A>G (p.Glu1470Gly) | ClinVar |
| 3 | g.38555732T>G | CA352144343 | SCN5A | c.4463A>C (p.Glu1488Ala) c.4466A>C (p.Glu1489Ala) c.4412A>C (p.Glu1471Ala) c.4304A>C (p.Glu1435Ala) c.4337A>C (p.Glu1446Ala) c.4409A>C (p.Glu1470Ala) | |
| 3 | g.38555733C>A | CA352144345 | SCN5A | c.4462G>T (p.Glu1488Ter) c.4465G>T (p.Glu1489Ter) c.4411G>T (p.Glu1471Ter) c.4303G>T (p.Glu1435Ter) c.4336G>T (p.Glu1446Ter) c.4408G>T (p.Glu1470Ter) | dbSNP |
| 3 | g.38555733C= | CA1358562994 | SCN5A | c.4462G= (p.Glu1488=) c.4465G= (p.Glu1489=) c.4411G= (p.Glu1471=) c.4303G= (p.Glu1435=) c.4336G= (p.Glu1446=) c.4408G= (p.Glu1470=) | |
| 3 | g.38555733C>G | CA352144346 | SCN5A | c.4462G>C (p.Glu1488Gln) c.4465G>C (p.Glu1489Gln) c.4411G>C (p.Glu1471Gln) c.4303G>C (p.Glu1435Gln) c.4336G>C (p.Glu1446Gln) c.4408G>C (p.Glu1470Gln) | |
| 3 | g.38555733C>T | CA352144347 | SCN5A | c.4462G>A (p.Glu1488Lys) c.4465G>A (p.Glu1489Lys) c.4411G>A (p.Glu1471Lys) c.4303G>A (p.Glu1435Lys) c.4336G>A (p.Glu1446Lys) c.4408G>A (p.Glu1470Lys) | |
| 3 | g.38555734T>A | CA433135812 | SCN5A | c.4461A>T (p.Thr1487=) c.4464A>T (p.Thr1488=) c.4410A>T (p.Thr1470=) c.4302A>T (p.Thr1434=) c.4335A>T (p.Thr1445=) c.4407A>T (p.Thr1469=) | |
| 3 | g.38555734T>C | CA433135813 | SCN5A | c.4461A>G (p.Thr1487=) c.4464A>G (p.Thr1488=) c.4410A>G (p.Thr1470=) c.4302A>G (p.Thr1434=) c.4335A>G (p.Thr1445=) c.4407A>G (p.Thr1469=) | |
| 3 | g.38555734T>G | CA433135815 | SCN5A | c.4461A>C (p.Thr1487=) c.4464A>C (p.Thr1488=) c.4410A>C (p.Thr1470=) c.4302A>C (p.Thr1434=) c.4335A>C (p.Thr1445=) c.4407A>C (p.Thr1469=) | |
| 3 | g.38555735G>A | CA352144348 | SCN5A | c.4460C>T (p.Thr1487Ile) c.4463C>T (p.Thr1488Ile) c.4409C>T (p.Thr1470Ile) c.4301C>T (p.Thr1434Ile) c.4334C>T (p.Thr1445Ile) c.4406C>T (p.Thr1469Ile) | |
| 3 | g.38555735G>C | CA018296 | SCN5A | c.4460C>G (p.Thr1487Arg) c.4463C>G (p.Thr1488Arg) c.4409C>G (p.Thr1470Arg) c.4301C>G (p.Thr1434Arg) c.4334C>G (p.Thr1445Arg) c.4406C>G (p.Thr1469Arg) | ClinVar dbSNP |
| 3 | g.38555735G= | CA1358563001 | SCN5A | c.4460C= (p.Thr1487=) c.4463C= (p.Thr1488=) c.4409C= (p.Thr1470=) c.4301C= (p.Thr1434=) c.4334C= (p.Thr1445=) c.4406C= (p.Thr1469=) | |
| 3 | g.38555735G>T | CA352144349 | SCN5A | c.4460C>A (p.Thr1487Lys) c.4463C>A (p.Thr1488Lys) c.4409C>A (p.Thr1470Lys) c.4301C>A (p.Thr1434Lys) c.4334C>A (p.Thr1445Lys) c.4406C>A (p.Thr1469Lys) | ClinVar dbSNP |
| 3 | g.38555736T>A | CA352144350 | SCN5A | c.4459A>T (p.Thr1487Ser) c.4462A>T (p.Thr1488Ser) c.4408A>T (p.Thr1470Ser) c.4300A>T (p.Thr1434Ser) c.4333A>T (p.Thr1445Ser) c.4405A>T (p.Thr1469Ser) | |
| 3 | g.38555736T>C | CA018290 | SCN5A | c.4459A>G (p.Thr1487Ala) c.4462A>G (p.Thr1488Ala) c.4408A>G (p.Thr1470Ala) c.4300A>G (p.Thr1434Ala) c.4333A>G (p.Thr1445Ala) c.4405A>G (p.Thr1469Ala) | dbSNP |
| 3 | g.38555736T>G | CA352144351 | SCN5A | c.4459A>C (p.Thr1487Pro) c.4462A>C (p.Thr1488Pro) c.4408A>C (p.Thr1470Pro) c.4300A>C (p.Thr1434Pro) c.4333A>C (p.Thr1445Pro) c.4405A>C (p.Thr1469Pro) | |
| 3 | g.38555736T= | CA1358563008 | SCN5A | c.4459A= (p.Thr1487=) c.4462A= (p.Thr1488=) c.4408A= (p.Thr1470=) c.4300A= (p.Thr1434=) c.4333A= (p.Thr1445=) c.4405A= (p.Thr1469=) | |
| 3 | g.38555737C>A | CA352144354 | SCN5A | c.4458G>T (p.Met1486Ile) c.4461G>T (p.Met1487Ile) c.4407G>T (p.Met1469Ile) c.4299G>T (p.Met1433Ile) c.4332G>T (p.Met1444Ile) c.4404G>T (p.Met1468Ile) | |
| 3 | g.38555737C>G | CA352144353 | SCN5A | c.4458G>C (p.Met1486Ile) c.4461G>C (p.Met1487Ile) c.4407G>C (p.Met1469Ile) c.4299G>C (p.Met1433Ile) c.4332G>C (p.Met1444Ile) c.4404G>C (p.Met1468Ile) | |
| 3 | g.38555737C>T | CA352144352 | SCN5A | c.4458G>A (p.Met1486Ile) c.4461G>A (p.Met1487Ile) c.4407G>A (p.Met1469Ile) c.4299G>A (p.Met1433Ile) c.4332G>A (p.Met1444Ile) c.4404G>A (p.Met1468Ile) | |
| 3 | g.38555738A>C | CA352144355 | SCN5A | c.4457T>G (p.Met1486Arg) c.4460T>G (p.Met1487Arg) c.4406T>G (p.Met1469Arg) c.4298T>G (p.Met1433Arg) c.4331T>G (p.Met1444Arg) c.4403T>G (p.Met1468Arg) | |
| 3 | g.38555738A>G | CA352144356 | SCN5A | c.4457T>C (p.Met1486Thr) c.4460T>C (p.Met1487Thr) c.4406T>C (p.Met1469Thr) c.4298T>C (p.Met1433Thr) c.4331T>C (p.Met1444Thr) c.4403T>C (p.Met1468Thr) | |
| 3 | g.38555738A>T | CA352144357 | SCN5A | c.4457T>A (p.Met1486Lys) c.4460T>A (p.Met1487Lys) c.4406T>A (p.Met1469Lys) c.4298T>A (p.Met1433Lys) c.4331T>A (p.Met1444Lys) c.4403T>A (p.Met1468Lys) | |
| 3 | g.38555739T>A | CA352144358 | SCN5A | c.4456A>T (p.Met1486Leu) c.4459A>T (p.Met1487Leu) c.4405A>T (p.Met1469Leu) c.4297A>T (p.Met1433Leu) c.4330A>T (p.Met1444Leu) c.4402A>T (p.Met1468Leu) | |
| 3 | g.38555739T>C | CA352144359 | SCN5A | c.4456A>G (p.Met1486Val) c.4459A>G (p.Met1487Val) c.4405A>G (p.Met1469Val) c.4297A>G (p.Met1433Val) c.4330A>G (p.Met1444Val) c.4402A>G (p.Met1468Val) | |
| 3 | g.38555739T>G | CA018283 | SCN5A | c.4456A>C (p.Met1486Leu) c.4459A>C (p.Met1487Leu) c.4405A>C (p.Met1469Leu) c.4297A>C (p.Met1433Leu) c.4330A>C (p.Met1444Leu) c.4402A>C (p.Met1468Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38555739T= | CA1358563009 | SCN5A | c.4456A= (p.Met1486=) c.4459A= (p.Met1487=) c.4405A= (p.Met1469=) c.4297A= (p.Met1433=) c.4330A= (p.Met1444=) c.4402A= (p.Met1468=) | |
| 3 | g.38555740G>A | CA433135829 | SCN5A | c.4455C>T (p.Phe1485=) c.4458C>T (p.Phe1486=) c.4404C>T (p.Phe1468=) c.4296C>T (p.Phe1432=) c.4329C>T (p.Phe1443=) c.4401C>T (p.Phe1467=) | COSMIC |
| 3 | g.38555740G>C | CA352144360 | SCN5A | c.4455C>G (p.Phe1485Leu) c.4458C>G (p.Phe1486Leu) c.4404C>G (p.Phe1468Leu) c.4296C>G (p.Phe1432Leu) c.4329C>G (p.Phe1443Leu) c.4401C>G (p.Phe1467Leu) | |
| 3 | g.38555740G>T | CA352144361 | SCN5A | c.4455C>A (p.Phe1485Leu) c.4458C>A (p.Phe1486Leu) c.4404C>A (p.Phe1468Leu) c.4296C>A (p.Phe1432Leu) c.4329C>A (p.Phe1443Leu) c.4401C>A (p.Phe1467Leu) | |
| 3 | g.38555742_38555744del | CA2586965715 | SCN5A | c.4453_4455del (p.Phe1485del) c.4456_4458del (p.Phe1486del) c.4402_4404del (p.Phe1468del) c.4294_4296del (p.Phe1432del) c.4327_4329del (p.Phe1443del) c.4399_4401del (p.Phe1467del) | |
| 3 | g.38555741A>C | CA352144362 | SCN5A | c.4454T>G (p.Phe1485Cys) c.4457T>G (p.Phe1486Cys) c.4403T>G (p.Phe1468Cys) c.4295T>G (p.Phe1432Cys) c.4328T>G (p.Phe1443Cys) c.4400T>G (p.Phe1467Cys) | |
| 3 | g.38555741A>G | CA352144363 | SCN5A | c.4454T>C (p.Phe1485Ser) c.4457T>C (p.Phe1486Ser) c.4403T>C (p.Phe1468Ser) c.4295T>C (p.Phe1432Ser) c.4328T>C (p.Phe1443Ser) c.4400T>C (p.Phe1467Ser) | |
| 3 | g.38555741A>T | CA352144364 | SCN5A | c.4454T>A (p.Phe1485Tyr) c.4457T>A (p.Phe1486Tyr) c.4403T>A (p.Phe1468Tyr) c.4295T>A (p.Phe1432Tyr) c.4328T>A (p.Phe1443Tyr) c.4400T>A (p.Phe1467Tyr) | |
| 3 | g.38555742A= | CA1358563014 | SCN5A | c.4453T= (p.Phe1485=) c.4456T= (p.Phe1486=) c.4402T= (p.Phe1468=) c.4294T= (p.Phe1432=) c.4327T= (p.Phe1443=) c.4399T= (p.Phe1467=) | |
| 3 | g.38555742A>C | CA352144366 | SCN5A | c.4453T>G (p.Phe1485Val) c.4456T>G (p.Phe1486Val) c.4402T>G (p.Phe1468Val) c.4294T>G (p.Phe1432Val) c.4327T>G (p.Phe1443Val) c.4399T>G (p.Phe1467Val) | |
| 3 | g.38555742A>G | CA018277 | SCN5A | c.4453T>C (p.Phe1485Leu) c.4456T>C (p.Phe1486Leu) c.4402T>C (p.Phe1468Leu) c.4294T>C (p.Phe1432Leu) c.4327T>C (p.Phe1443Leu) c.4399T>C (p.Phe1467Leu) | ClinVar dbSNP |
| 3 | g.38555742A>T | CA352144365 | SCN5A | c.4453T>A (p.Phe1485Ile) c.4456T>A (p.Phe1486Ile) c.4402T>A (p.Phe1468Ile) c.4294T>A (p.Phe1432Ile) c.4327T>A (p.Phe1443Ile) c.4399T>A (p.Phe1467Ile) | |
| 3 | g.38555743G>A | CA433135839 | SCN5A | c.4452C>T (p.Ile1484=) c.4455C>T (p.Ile1485=) c.4401C>T (p.Ile1467=) c.4293C>T (p.Ile1431=) c.4326C>T (p.Ile1442=) c.4398C>T (p.Ile1466=) | |
| 3 | g.38555743G>C | CA352144367 | SCN5A | c.4452C>G (p.Ile1484Met) c.4455C>G (p.Ile1485Met) c.4401C>G (p.Ile1467Met) c.4293C>G (p.Ile1431Met) c.4326C>G (p.Ile1442Met) c.4398C>G (p.Ile1466Met) | |
| 3 | g.38555743G>T | CA433135842 | SCN5A | c.4452C>A (p.Ile1484=) c.4455C>A (p.Ile1485=) c.4401C>A (p.Ile1467=) c.4293C>A (p.Ile1431=) c.4326C>A (p.Ile1442=) c.4398C>A (p.Ile1466=) | |
| 3 | g.38555744A>C | CA352144368 | SCN5A | c.4451T>G (p.Ile1484Ser) c.4454T>G (p.Ile1485Ser) c.4400T>G (p.Ile1467Ser) c.4292T>G (p.Ile1431Ser) c.4325T>G (p.Ile1442Ser) c.4397T>G (p.Ile1466Ser) | |
| 3 | g.38555744A>G | CA352144369 | SCN5A | c.4451T>C (p.Ile1484Thr) c.4454T>C (p.Ile1485Thr) c.4400T>C (p.Ile1467Thr) c.4292T>C (p.Ile1431Thr) c.4325T>C (p.Ile1442Thr) c.4397T>C (p.Ile1466Thr) | |
| 3 | g.38555744A>T | CA352144370 | SCN5A | c.4451T>A (p.Ile1484Asn) c.4454T>A (p.Ile1485Asn) c.4400T>A (p.Ile1467Asn) c.4292T>A (p.Ile1431Asn) c.4325T>A (p.Ile1442Asn) c.4397T>A (p.Ile1466Asn) | |
| 3 | g.38555745T>A | CA352144372 | SCN5A | c.4450A>T (p.Ile1484Phe) c.4453A>T (p.Ile1485Phe) c.4399A>T (p.Ile1467Phe) c.4291A>T (p.Ile1431Phe) c.4324A>T (p.Ile1442Phe) c.4396A>T (p.Ile1466Phe) |