Canonical Allele Identifier: CA2580069749

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 2106626
• ClinVar RCV Id: RCV003658602

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551533del , CM000665.2:g.38551533del	GRCh38
NC_000003.11:g.38593024del , CM000665.1:g.38593024del	GRCh37
NC_000003.10:g.38568028del	NCBI36
NG_008934.1:g.103140del , LRG_289:g.103140del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4836del	ENSP00000333674.7:p.Lys1613SerfsTer17
ENST00000333535.9:c.4839del	ENSP00000328968.4:p.Lys1614SerfsTer17
ENST00000413689.6:c.4839del MANE Plus Clinical	ENSP00000410257.1:p.Lys1614SerfsTer17
ENST00000423572.7:c.4836del MANE Select	ENSP00000398266.2:p.Lys1613SerfsTer17
ENST00000333535.8:c.4839del	ENSP00000328968.4:p.Lys1614SerfsTer17
ENST00000413689.5:c.4839del	ENSP00000410257.1:p.Lys1614SerfsTer17
ENST00000414099.6:c.4785del	ENSP00000398962.2:p.Lys1596SerfsTer17
ENST00000423572.6:c.4836del	ENSP00000398266.2:p.Lys1613SerfsTer17
ENST00000425664.5:c.4785del	ENSP00000416634.1:p.Lys1596SerfsTer17
ENST00000449557.6:c.4677del	ENSP00000413996.2:p.Lys1560SerfsTer17
ENST00000450102.6:c.4677del	ENSP00000403355.2:p.Lys1560SerfsTer17
ENST00000451551.6:c.4677del	ENSP00000388797.2:p.Lys1560SerfsTer17
ENST00000455624.6:c.4740del	ENSP00000399524.2:p.Lys1581SerfsTer17
NM_000335.4:c.4836del , LRG_289t2:c.4836del	NP_000326.2:p.Lys1613SerfsTer17
NM_001099404.1:c.4839del , LRG_289t3:c.4839del	NP_001092874.1:p.Lys1614SerfsTer17
NM_001099405.1:c.4785del	NP_001092875.1:p.Lys1596SerfsTer17
NM_001160160.1:c.4740del	NP_001153632.1:p.Lys1581SerfsTer17
NM_001160161.1:c.4677del	NP_001153633.1:p.Lys1560SerfsTer17
NM_198056.2:c.4839del , LRG_289t1:c.4839del	NP_932173.1:p.Lys1614SerfsTer17
XM_006713282.2:c.4839del	XP_006713345.1:p.Lys1614SerfsTer17
XM_011533991.1:c.4836del	XP_011532293.1:p.Lys1613SerfsTer17
XM_011533992.1:c.4710del	XP_011532294.1:p.Lys1571SerfsTer17
NM_001354701.1:c.4782del	NP_001341630.1:p.Lys1595SerfsTer17
XM_011533991.2:c.4836del	XP_011532293.1:p.Lys1613SerfsTer17
XM_017007017.1:c.4677del	XP_016862506.1:p.Lys1560SerfsTer17
NM_000335.5:c.4836del MANE Select	NP_000326.2:p.Lys1613SerfsTer17
NM_001160160.2:c.4740del	NP_001153632.1:p.Lys1581SerfsTer17
NM_001354701.2:c.4782del	NP_001341630.1:p.Lys1595SerfsTer17
NM_001099404.2:c.4839del MANE Plus Clinical	NP_001092874.1:p.Lys1614SerfsTer17
NM_001099405.2:c.4785del	NP_001092875.1:p.Lys1596SerfsTer17
NM_001160161.2:c.4677del	NP_001153633.1:p.Lys1560SerfsTer17
NM_198056.3:c.4839del	NP_932173.1:p.Lys1614SerfsTer17