Canonical Allele Identifier: CA542269479

Gene: SCN5A

Linked Data

• dbSNP Id: rs1400211590
• gnomAD v2: 3-38593007-G-GTGTA
• gnomAD v3: 3-38551516-G-GTGTA
• gnomAD v4: 3-38551516-G-GTGTA
• MyVariant Identifiers: chr3:g.38593007_38593008insTGTA (hg19) ; chr3:g.38551516_38551517insTGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551516_38551517insTGTA , CM000665.2:g.38551516_38551517insTGTA	GRCh38
NC_000003.11:g.38593007_38593008insTGTA , CM000665.1:g.38593007_38593008insTGTA	GRCh37
NC_000003.10:g.38568011_38568012insTGTA	NCBI36
NG_008934.1:g.103156_103157insTACA , LRG_289:g.103156_103157insTACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4852_4853insTACA	ENSP00000333674.7:p.Pro1618LeufsTer?
ENST00000333535.9:c.4855_4856insTACA	ENSP00000328968.4:p.Pro1619LeufsTer?
ENST00000413689.6:c.4855_4856insTACA MANE Plus Clinical	ENSP00000410257.1:p.Pro1619LeufsTer?
ENST00000423572.7:c.4852_4853insTACA MANE Select	ENSP00000398266.2:p.Pro1618LeufsTer?
ENST00000333535.8:c.4855_4856insTACA	ENSP00000328968.4:p.Pro1619LeufsTer?
ENST00000413689.5:c.4855_4856insTACA	ENSP00000410257.1:p.Pro1619LeufsTer?
ENST00000414099.6:c.4801_4802insTACA	ENSP00000398962.2:p.Pro1601LeufsTer?
ENST00000423572.6:c.4852_4853insTACA	ENSP00000398266.2:p.Pro1618LeufsTer?
ENST00000425664.5:c.4801_4802insTACA	ENSP00000416634.1:p.Pro1601LeufsTer?
ENST00000449557.6:c.4693_4694insTACA	ENSP00000413996.2:p.Pro1565LeufsTer?
ENST00000450102.6:c.4693_4694insTACA	ENSP00000403355.2:p.Pro1565LeufsTer?
ENST00000451551.6:c.4693_4694insTACA	ENSP00000388797.2:p.Pro1565LeufsTer?
ENST00000455624.6:c.4756_4757insTACA	ENSP00000399524.2:p.Pro1586LeufsTer?
NM_000335.4:c.4852_4853insTACA , LRG_289t2:c.4852_4853insTACA	NP_000326.2:p.Pro1618LeufsTer?
NM_001099404.1:c.4855_4856insTACA , LRG_289t3:c.4855_4856insTACA	NP_001092874.1:p.Pro1619LeufsTer?
NM_001099405.1:c.4801_4802insTACA	NP_001092875.1:p.Pro1601LeufsTer?
NM_001160160.1:c.4756_4757insTACA	NP_001153632.1:p.Pro1586LeufsTer?
NM_001160161.1:c.4693_4694insTACA	NP_001153633.1:p.Pro1565LeufsTer?
NM_198056.2:c.4855_4856insTACA , LRG_289t1:c.4855_4856insTACA	NP_932173.1:p.Pro1619LeufsTer?
XM_006713282.2:c.4855_4856insTACA	XP_006713345.1:p.Pro1619LeufsTer?
XM_011533991.1:c.4852_4853insTACA	XP_011532293.1:p.Pro1618LeufsTer?
XM_011533992.1:c.4726_4727insTACA	XP_011532294.1:p.Pro1576LeufsTer?
NM_001354701.1:c.4798_4799insTACA	NP_001341630.1:p.Pro1600LeufsTer?
XM_011533991.2:c.4852_4853insTACA	XP_011532293.1:p.Pro1618LeufsTer?
XM_017007017.1:c.4693_4694insTACA	XP_016862506.1:p.Pro1565LeufsTer?
NM_000335.5:c.4852_4853insTACA MANE Select	NP_000326.2:p.Pro1618LeufsTer?
NM_001160160.2:c.4756_4757insTACA	NP_001153632.1:p.Pro1586LeufsTer?
NM_001354701.2:c.4798_4799insTACA	NP_001341630.1:p.Pro1600LeufsTer?
NM_001099404.2:c.4855_4856insTACA MANE Plus Clinical	NP_001092874.1:p.Pro1619LeufsTer?
NM_001099405.2:c.4801_4802insTACA	NP_001092875.1:p.Pro1601LeufsTer?
NM_001160161.2:c.4693_4694insTACA	NP_001153633.1:p.Pro1565LeufsTer?
NM_198056.3:c.4855_4856insTACA	NP_932173.1:p.Pro1619LeufsTer?