Canonical Allele Identifier: CA1358565738
Gene: SCN5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38560343A= , CM000665.2:g.38560343A= GRCh38
NC_000003.11:g.38601834A= , CM000665.1:g.38601834A= GRCh37
NC_000003.10:g.38576838A= NCBI36
NG_008934.1:g.94330T= , LRG_289:g.94330T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000327956.7:c.4046T= ENSP00000333674.7:p.Ile1349=
ENST00000333535.9:c.4049T= ENSP00000328968.4:p.Ile1350=
ENST00000413689.6:c.4049T= MANE Plus Clinical ENSP00000410257.1:p.Ile1350=
ENST00000423572.7:c.4046T= MANE Select ENSP00000398266.2:p.Ile1349=
ENST00000333535.8:c.4049T= ENSP00000328968.4:p.Ile1350=
ENST00000413689.5:c.4049T= ENSP00000410257.1:p.Ile1350=
ENST00000414099.6:c.4049T= ENSP00000398962.2:p.Ile1350=
ENST00000423572.6:c.4046T= ENSP00000398266.2:p.Ile1349=
ENST00000425664.5:c.4049T= ENSP00000416634.1:p.Ile1350=
ENST00000449557.6:c.3887T= ENSP00000413996.2:p.Ile1296=
ENST00000450102.6:c.3887T= ENSP00000403355.2:p.Ile1296=
ENST00000451551.6:c.3887T= ENSP00000388797.2:p.Ile1296=
ENST00000455624.6:c.4046T= ENSP00000399524.2:p.Ile1349=
NM_000335.4:c.4046T= , LRG_289t2:c.4046T= NP_000326.2:p.Ile1349=
NM_001099404.1:c.4049T= , LRG_289t3:c.4049T= NP_001092874.1:p.Ile1350=
NM_001099405.1:c.4049T= NP_001092875.1:p.Ile1350=
NM_001160160.1:c.4046T= NP_001153632.1:p.Ile1349=
NM_001160161.1:c.3887T= NP_001153633.1:p.Ile1296=
NM_198056.2:c.4049T= , LRG_289t1:c.4049T= NP_932173.1:p.Ile1350=
XM_006713282.2:c.4049T= XP_006713345.1:p.Ile1350=
XM_011533991.1:c.4046T= XP_011532293.1:p.Ile1349=
XM_011533992.1:c.3920T= XP_011532294.1:p.Ile1307=
NM_001354701.1:c.4046T= NP_001341630.1:p.Ile1349=
XM_011533991.2:c.4046T= XP_011532293.1:p.Ile1349=
XM_017007017.1:c.3887T= XP_016862506.1:p.Ile1296=
NM_000335.5:c.4046T= MANE Select NP_000326.2:p.Ile1349=
NM_001160160.2:c.4046T= NP_001153632.1:p.Ile1349=
NM_001354701.2:c.4046T= NP_001341630.1:p.Ile1349=
NM_001099404.2:c.4049T= MANE Plus Clinical NP_001092874.1:p.Ile1350=
NM_001099405.2:c.4049T= NP_001092875.1:p.Ile1350=
NM_001160161.2:c.3887T= NP_001153633.1:p.Ile1296=
NM_198056.3:c.4049T= NP_932173.1:p.Ile1350=