Canonical Allele Identifier: CA019314

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 201563
• ClinVar RCV Id: RCV000183157
• dbSNP Id: rs794728916
• MyVariant Identifiers: chr3:g.38592320_38592334del (hg19) ; chr3:g.38550829_38550843del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550830_38550844del , CM000665.2:g.38550830_38550844del	GRCh38
NC_000003.11:g.38592321_38592335del , CM000665.1:g.38592321_38592335del	GRCh37
NC_000003.10:g.38567325_38567339del	NCBI36
NG_008934.1:g.103830_103844del , LRG_289:g.103830_103844del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5526_5540del	ENSP00000333674.7:p.Ser1843_Ile1847del
ENST00000333535.9:c.5529_5543del	ENSP00000328968.4:p.Ser1844_Ile1848del
ENST00000413689.6:c.5529_5543del MANE Plus Clinical	ENSP00000410257.1:p.Ser1844_Ile1848del
ENST00000423572.7:c.5526_5540del MANE Select	ENSP00000398266.2:p.Ser1843_Ile1847del
ENST00000333535.8:c.5529_5543del	ENSP00000328968.4:p.Ser1844_Ile1848del
ENST00000413689.5:c.5529_5543del	ENSP00000410257.1:p.Ser1844_Ile1848del
ENST00000414099.6:c.5475_5489del	ENSP00000398962.2:p.Ser1826_Ile1830del
ENST00000423572.6:c.5526_5540del	ENSP00000398266.2:p.Ser1843_Ile1847del
ENST00000425664.5:c.5475_5489del	ENSP00000416634.1:p.Ser1826_Ile1830del
ENST00000449557.6:c.5367_5381del	ENSP00000413996.2:p.Ser1790_Ile1794del
ENST00000450102.6:c.5367_5381del	ENSP00000403355.2:p.Ser1790_Ile1794del
ENST00000451551.6:c.5367_5381del	ENSP00000388797.2:p.Ser1790_Ile1794del
ENST00000455624.6:c.5430_5444del	ENSP00000399524.2:p.Ser1811_Ile1815del
NM_000335.4:c.5526_5540del , LRG_289t2:c.5526_5540del	NP_000326.2:p.Ser1843_Ile1847del
NM_001099404.1:c.5529_5543del , LRG_289t3:c.5529_5543del	NP_001092874.1:p.Ser1844_Ile1848del
NM_001099405.1:c.5475_5489del	NP_001092875.1:p.Ser1826_Ile1830del
NM_001160160.1:c.5430_5444del	NP_001153632.1:p.Ser1811_Ile1815del
NM_001160161.1:c.5367_5381del	NP_001153633.1:p.Ser1790_Ile1794del
NM_198056.2:c.5529_5543del , LRG_289t1:c.5529_5543del	NP_932173.1:p.Ser1844_Ile1848del
XM_006713282.2:c.5529_5543del	XP_006713345.1:p.Ser1844_Ile1848del
XM_011533991.1:c.5526_5540del	XP_011532293.1:p.Ser1843_Ile1847del
XM_011533992.1:c.5400_5414del	XP_011532294.1:p.Ser1801_Ile1805del
NM_001354701.1:c.5472_5486del	NP_001341630.1:p.Ser1825_Ile1829del
XM_011533991.2:c.5526_5540del	XP_011532293.1:p.Ser1843_Ile1847del
XM_017007017.1:c.5367_5381del	XP_016862506.1:p.Ser1790_Ile1794del
NM_000335.5:c.5526_5540del MANE Select	NP_000326.2:p.Ser1843_Ile1847del
NM_001160160.2:c.5430_5444del	NP_001153632.1:p.Ser1811_Ile1815del
NM_001354701.2:c.5472_5486del	NP_001341630.1:p.Ser1825_Ile1829del
NM_001099404.2:c.5529_5543del MANE Plus Clinical	NP_001092874.1:p.Ser1844_Ile1848del
NM_001099405.2:c.5475_5489del	NP_001092875.1:p.Ser1826_Ile1830del
NM_001160161.2:c.5367_5381del	NP_001153633.1:p.Ser1790_Ile1794del
NM_198056.3:c.5529_5543del	NP_932173.1:p.Ser1844_Ile1848del