Canonical Allele Identifier: CA1139657961

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 984492
• ClinVar RCV Id: RCV001841199
• dbSNP Id: rs2061022558

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550929_38550932del , CM000665.2:g.38550929_38550932del	GRCh38
NC_000003.11:g.38592420_38592423del , CM000665.1:g.38592420_38592423del	GRCh37
NC_000003.10:g.38567424_38567427del	NCBI36
NG_008934.1:g.103744_103747del , LRG_289:g.103744_103747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5440_5443del	ENSP00000333674.7:p.Ser1814ThrfsTer18
ENST00000333535.9:c.5443_5446del	ENSP00000328968.4:p.Ser1815ThrfsTer18
ENST00000413689.6:c.5443_5446del MANE Plus Clinical	ENSP00000410257.1:p.Ser1815ThrfsTer18
ENST00000423572.7:c.5440_5443del MANE Select	ENSP00000398266.2:p.Ser1814ThrfsTer18
ENST00000333535.8:c.5443_5446del	ENSP00000328968.4:p.Ser1815ThrfsTer18
ENST00000413689.5:c.5443_5446del	ENSP00000410257.1:p.Ser1815ThrfsTer18
ENST00000414099.6:c.5389_5392del	ENSP00000398962.2:p.Ser1797ThrfsTer18
ENST00000423572.6:c.5440_5443del	ENSP00000398266.2:p.Ser1814ThrfsTer18
ENST00000425664.5:c.5389_5392del	ENSP00000416634.1:p.Ser1797ThrfsTer18
ENST00000449557.6:c.5281_5284del	ENSP00000413996.2:p.Ser1761ThrfsTer18
ENST00000450102.6:c.5281_5284del	ENSP00000403355.2:p.Ser1761ThrfsTer18
ENST00000451551.6:c.5281_5284del	ENSP00000388797.2:p.Ser1761ThrfsTer18
ENST00000455624.6:c.5344_5347del	ENSP00000399524.2:p.Ser1782ThrfsTer18
NM_000335.4:c.5440_5443del , LRG_289t2:c.5440_5443del	NP_000326.2:p.Ser1814ThrfsTer18
NM_001099404.1:c.5443_5446del , LRG_289t3:c.5443_5446del	NP_001092874.1:p.Ser1815ThrfsTer18
NM_001099405.1:c.5389_5392del	NP_001092875.1:p.Ser1797ThrfsTer18
NM_001160160.1:c.5344_5347del	NP_001153632.1:p.Ser1782ThrfsTer18
NM_001160161.1:c.5281_5284del	NP_001153633.1:p.Ser1761ThrfsTer18
NM_198056.2:c.5443_5446del , LRG_289t1:c.5443_5446del	NP_932173.1:p.Ser1815ThrfsTer18
XM_006713282.2:c.5443_5446del	XP_006713345.1:p.Ser1815ThrfsTer18
XM_011533991.1:c.5440_5443del	XP_011532293.1:p.Ser1814ThrfsTer18
XM_011533992.1:c.5314_5317del	XP_011532294.1:p.Ser1772ThrfsTer18
NM_001354701.1:c.5386_5389del	NP_001341630.1:p.Ser1796ThrfsTer18
XM_011533991.2:c.5440_5443del	XP_011532293.1:p.Ser1814ThrfsTer18
XM_017007017.1:c.5281_5284del	XP_016862506.1:p.Ser1761ThrfsTer18
NM_000335.5:c.5440_5443del MANE Select	NP_000326.2:p.Ser1814ThrfsTer18
NM_001160160.2:c.5344_5347del	NP_001153632.1:p.Ser1782ThrfsTer18
NM_001354701.2:c.5386_5389del	NP_001341630.1:p.Ser1796ThrfsTer18
NM_001099404.2:c.5443_5446del MANE Plus Clinical	NP_001092874.1:p.Ser1815ThrfsTer18
NM_001099405.2:c.5389_5392del	NP_001092875.1:p.Ser1797ThrfsTer18
NM_001160161.2:c.5281_5284del	NP_001153633.1:p.Ser1761ThrfsTer18
NM_198056.3:c.5443_5446del	NP_932173.1:p.Ser1815ThrfsTer18