Canonical Allele Identifier: CA085349

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.[38603929T>C;38604067G>A] , CM000665.2:g.[38603929T>C;38604067G>A]	GRCh38
NC_000003.11:g.[38645420T>C;38645558G>A] , CM000665.1:g.[38645420T>C;38645558G>A]	GRCh37
NC_000003.10:g.[38620424T>C;38620562G>A]	NCBI36
NG_008934.1:g.[50606C>T;50744A>G] , LRG_289:g.[50606C>T;50744A>G]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.[1535C>T;1673A>G]	ENSP00000333674.7:p.[Thr512Ile;His558Arg]
ENST00000333535.9:c.[1535C>T;1673A>G]	ENSP00000328968.4:p.[Thr512Ile;His558Arg]
ENST00000413689.6:c.[1535C>T;1673A>G] MANE Plus Clinical	ENSP00000410257.1:p.[Thr512Ile;His558Arg]
ENST00000423572.7:c.[1535C>T;1673A>G] MANE Select	ENSP00000398266.2:p.[Thr512Ile;His558Arg]
ENST00000333535.8:c.[1535C>T;1673A>G]	ENSP00000328968.4:p.[Thr512Ile;His558Arg]
ENST00000413689.5:c.[1535C>T;1673A>G]	ENSP00000410257.1:p.[Thr512Ile;His558Arg]
ENST00000414099.6:c.[1535C>T;1673A>G]	ENSP00000398962.2:p.[Thr512Ile;His558Arg]
ENST00000423572.6:c.[1535C>T;1673A>G]	ENSP00000398266.2:p.[Thr512Ile;His558Arg]
ENST00000425664.5:c.[1535C>T;1673A>G]	ENSP00000416634.1:p.[Thr512Ile;His558Arg]
ENST00000449557.6:c.[1535C>T;1673A>G]	ENSP00000413996.2:p.[Thr512Ile;His558Arg]
ENST00000450102.6:c.[1535C>T;1673A>G]	ENSP00000403355.2:p.[Thr512Ile;His558Arg]
ENST00000451551.6:c.[1535C>T;1673A>G]	ENSP00000388797.2:p.[Thr512Ile;His558Arg]
ENST00000455624.6:c.[1535C>T;1673A>G]	ENSP00000399524.2:p.[Thr512Ile;His558Arg]
NM_000335.4:c.[1535C>T;1673A>G] , LRG_289t2:c.[1535C>T;1673A>G]	NP_000326.2:p.[Thr512Ile;His558Arg]
NM_001099404.1:c.[1535C>T;1673A>G] , LRG_289t3:c.[1535C>T;1673A>G]	NP_001092874.1:p.[Thr512Ile;His558Arg]
NM_001099405.1:c.[1535C>T;1673A>G]	NP_001092875.1:p.[Thr512Ile;His558Arg]
NM_001160160.1:c.[1535C>T;1673A>G]	NP_001153632.1:p.[Thr512Ile;His558Arg]
NM_001160161.1:c.[1535C>T;1673A>G]	NP_001153633.1:p.[Thr512Ile;His558Arg]
NM_198056.2:c.[1535C>T;1673A>G] , LRG_289t1:c.[1535C>T;1673A>G]	NP_932173.1:p.[Thr512Ile;His558Arg]
XM_006713282.2:c.[1535C>T;1673A>G]	XP_006713345.1:p.[Thr512Ile;His558Arg]
XM_011533991.1:c.[1535C>T;1673A>G]	XP_011532293.1:p.[Thr512Ile;His558Arg]
XM_011533992.1:c.[1406C>T;1544A>G]	XP_011532294.1:p.[Thr469Ile;His515Arg]
NM_001354701.1:c.[1535C>T;1673A>G]	NP_001341630.1:p.[Thr512Ile;His558Arg]
XM_011533991.2:c.[1535C>T;1673A>G]	XP_011532293.1:p.[Thr512Ile;His558Arg]
XM_017007017.1:c.[1535C>T;1673A>G]	XP_016862506.1:p.[Thr512Ile;His558Arg]
NM_000335.5:c.[1535C>T;1673A>G] MANE Select	NP_000326.2:p.[Thr512Ile;His558Arg]
NM_001160160.2:c.[1535C>T;1673A>G]	NP_001153632.1:p.[Thr512Ile;His558Arg]
NM_001354701.2:c.[1535C>T;1673A>G]	NP_001341630.1:p.[Thr512Ile;His558Arg]
NM_001099404.2:c.[1535C>T;1673A>G] MANE Plus Clinical	NP_001092874.1:p.[Thr512Ile;His558Arg]
NM_001099405.2:c.[1535C>T;1673A>G]	NP_001092875.1:p.[Thr512Ile;His558Arg]
NM_001160161.2:c.[1535C>T;1673A>G]	NP_001153633.1:p.[Thr512Ile;His558Arg]
NM_198056.3:c.[1535C>T;1673A>G]	NP_932173.1:p.[Thr512Ile;His558Arg]