Canonical Allele Identifier: CA915942428

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 817608
• ClinVar RCV Id: RCV001008773
• dbSNP Id: rs1575728590

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38562439_38562440del , CM000665.2:g.38562439_38562440del	GRCh38
NC_000003.11:g.38603930_38603931del , CM000665.1:g.38603930_38603931del	GRCh37
NC_000003.10:g.38578934_38578935del	NCBI36
NG_008934.1:g.92235_92236del , LRG_289:g.92235_92236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.3937_3938del	ENSP00000333674.7:p.Leu1313ValfsTer4
ENST00000333535.9:c.3940_3941del	ENSP00000328968.4:p.Leu1314ValfsTer4
ENST00000413689.6:c.3940_3941del MANE Plus Clinical	ENSP00000410257.1:p.Leu1314ValfsTer4
ENST00000423572.7:c.3937_3938del MANE Select	ENSP00000398266.2:p.Leu1313ValfsTer4
ENST00000333535.8:c.3940_3941del	ENSP00000328968.4:p.Leu1314ValfsTer4
ENST00000413689.5:c.3940_3941del	ENSP00000410257.1:p.Leu1314ValfsTer4
ENST00000414099.6:c.3940_3941del	ENSP00000398962.2:p.Leu1314ValfsTer4
ENST00000423572.6:c.3937_3938del	ENSP00000398266.2:p.Leu1313ValfsTer4
ENST00000425664.5:c.3940_3941del	ENSP00000416634.1:p.Leu1314ValfsTer4
ENST00000449557.6:c.3778_3779del	ENSP00000413996.2:p.Leu1260ValfsTer4
ENST00000450102.6:c.3778_3779del	ENSP00000403355.2:p.Leu1260ValfsTer4
ENST00000451551.6:c.3778_3779del	ENSP00000388797.2:p.Leu1260ValfsTer4
ENST00000455624.6:c.3937_3938del	ENSP00000399524.2:p.Leu1313ValfsTer4
NM_000335.4:c.3937_3938del , LRG_289t2:c.3937_3938del	NP_000326.2:p.Leu1313ValfsTer4
NM_001099404.1:c.3940_3941del , LRG_289t3:c.3940_3941del	NP_001092874.1:p.Leu1314ValfsTer4
NM_001099405.1:c.3940_3941del	NP_001092875.1:p.Leu1314ValfsTer4
NM_001160160.1:c.3937_3938del	NP_001153632.1:p.Leu1313ValfsTer4
NM_001160161.1:c.3778_3779del	NP_001153633.1:p.Leu1260ValfsTer4
NM_198056.2:c.3940_3941del , LRG_289t1:c.3940_3941del	NP_932173.1:p.Leu1314ValfsTer4
XM_006713282.2:c.3940_3941del	XP_006713345.1:p.Leu1314ValfsTer4
XM_011533991.1:c.3937_3938del	XP_011532293.1:p.Leu1313ValfsTer4
XM_011533992.1:c.3811_3812del	XP_011532294.1:p.Leu1271ValfsTer4
NM_001354701.1:c.3937_3938del	NP_001341630.1:p.Leu1313ValfsTer4
XM_011533991.2:c.3937_3938del	XP_011532293.1:p.Leu1313ValfsTer4
XM_017007017.1:c.3778_3779del	XP_016862506.1:p.Leu1260ValfsTer4
NM_000335.5:c.3937_3938del MANE Select	NP_000326.2:p.Leu1313ValfsTer4
NM_001160160.2:c.3937_3938del	NP_001153632.1:p.Leu1313ValfsTer4
NM_001354701.2:c.3937_3938del	NP_001341630.1:p.Leu1313ValfsTer4
NM_001099404.2:c.3940_3941del MANE Plus Clinical	NP_001092874.1:p.Leu1314ValfsTer4
NM_001099405.2:c.3940_3941del	NP_001092875.1:p.Leu1314ValfsTer4
NM_001160161.2:c.3778_3779del	NP_001153633.1:p.Leu1260ValfsTer4
NM_198056.3:c.3940_3941del	NP_932173.1:p.Leu1314ValfsTer4