Canonical Allele Identifier: CA307962

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 201566
• ClinVar RCV Id: RCV000183160 ; RCV001258367
• dbSNP Id: rs794728918
• MyVariant Identifiers: chr3:g.38618172dupG (hg19) ; chr3:g.38618171_38618172insG (hg19) ; chr3:g.38576681dupG (hg38) ; chr3:g.38576680_38576681insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38576683dup , CM000665.2:g.38576683dup	GRCh38
NC_000003.11:g.38618174dup , CM000665.1:g.38618174dup	GRCh37
NC_000003.10:g.38593178dup	NCBI36
NG_008934.1:g.77992dup , LRG_289:g.77992dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.3488dup	ENSP00000333674.7:p.Glu1164ArgfsTer6
ENST00000333535.9:c.3491dup	ENSP00000328968.4:p.Glu1165ArgfsTer6
ENST00000413689.6:c.3491dup MANE Plus Clinical	ENSP00000410257.1:p.Glu1165ArgfsTer6
ENST00000423572.7:c.3488dup MANE Select	ENSP00000398266.2:p.Glu1164ArgfsTer6
ENST00000333535.8:c.3491dup	ENSP00000328968.4:p.Glu1165ArgfsTer6
ENST00000413689.5:c.3491dup	ENSP00000410257.1:p.Glu1165ArgfsTer6
ENST00000414099.6:c.3491dup	ENSP00000398962.2:p.Glu1165ArgfsTer6
ENST00000423572.6:c.3488dup	ENSP00000398266.2:p.Glu1164ArgfsTer6
ENST00000425664.5:c.3491dup	ENSP00000416634.1:p.Glu1165ArgfsTer6
ENST00000449557.6:c.3329dup	ENSP00000413996.2:p.Glu1111ArgfsTer6
ENST00000450102.6:c.3329dup	ENSP00000403355.2:p.Glu1111ArgfsTer6
ENST00000451551.6:c.3329dup	ENSP00000388797.2:p.Glu1111ArgfsTer6
ENST00000455624.6:c.3488dup	ENSP00000399524.2:p.Glu1164ArgfsTer6
NM_000335.4:c.3488dup , LRG_289t2:c.3488dup	NP_000326.2:p.Glu1164ArgfsTer6
NM_001099404.1:c.3491dup , LRG_289t3:c.3491dup	NP_001092874.1:p.Glu1165ArgfsTer6
NM_001099405.1:c.3491dup	NP_001092875.1:p.Glu1165ArgfsTer6
NM_001160160.1:c.3488dup	NP_001153632.1:p.Glu1164ArgfsTer6
NM_001160161.1:c.3329dup	NP_001153633.1:p.Glu1111ArgfsTer6
NM_198056.2:c.3491dup , LRG_289t1:c.3491dup	NP_932173.1:p.Glu1165ArgfsTer6
XM_006713282.2:c.3491dup	XP_006713345.1:p.Glu1165ArgfsTer6
XM_011533991.1:c.3488dup	XP_011532293.1:p.Glu1164ArgfsTer6
XM_011533992.1:c.3362dup	XP_011532294.1:p.Glu1122ArgfsTer6
NM_001354701.1:c.3488dup	NP_001341630.1:p.Glu1164ArgfsTer6
XM_011533991.2:c.3488dup	XP_011532293.1:p.Glu1164ArgfsTer6
XM_017007017.1:c.3329dup	XP_016862506.1:p.Glu1111ArgfsTer6
NM_000335.5:c.3488dup MANE Select	NP_000326.2:p.Glu1164ArgfsTer6
NM_001160160.2:c.3488dup	NP_001153632.1:p.Glu1164ArgfsTer6
NM_001354701.2:c.3488dup	NP_001341630.1:p.Glu1164ArgfsTer6
NM_001099404.2:c.3491dup MANE Plus Clinical	NP_001092874.1:p.Glu1165ArgfsTer6
NM_001099405.2:c.3491dup	NP_001092875.1:p.Glu1165ArgfsTer6
NM_001160161.2:c.3329dup	NP_001153633.1:p.Glu1111ArgfsTer6
NM_198056.3:c.3491dup	NP_932173.1:p.Glu1165ArgfsTer6