Canonical Allele Identifier: CA891843409

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 572252
• ClinVar RCV Id: RCV003540714
• dbSNP Id: rs1559720961
• MyVariant Identifiers: chr3:g.38592499_38592502del (hg19) ; chr3:g.38551008_38551011del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551012_38551015del , CM000665.2:g.38551012_38551015del	GRCh38
NC_000003.11:g.38592503_38592506del , CM000665.1:g.38592503_38592506del	GRCh37
NC_000003.10:g.38567507_38567510del	NCBI36
NG_008934.1:g.103662_103665del , LRG_289:g.103662_103665del

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.5358_5361del	ENSP00000333674.7:p.Ser1786ArgfsTer?
ENST00000333535.9:c.5361_5364del	ENSP00000328968.4:p.Ser1787ArgfsTer?
ENST00000413689.6:c.5361_5364del MANE Plus Clinical	ENSP00000410257.1:p.Ser1787ArgfsTer?
ENST00000423572.7:c.5358_5361del MANE Select	ENSP00000398266.2:p.Ser1786ArgfsTer?
ENST00000333535.8:c.5361_5364del	ENSP00000328968.4:p.Ser1787ArgfsTer?
ENST00000413689.5:c.5361_5364del	ENSP00000410257.1:p.Ser1787ArgfsTer?
ENST00000414099.6:c.5307_5310del	ENSP00000398962.2:p.Ser1769ArgfsTer?
ENST00000423572.6:c.5358_5361del	ENSP00000398266.2:p.Ser1786ArgfsTer?
ENST00000425664.5:c.5307_5310del	ENSP00000416634.1:p.Ser1769ArgfsTer?
ENST00000449557.6:c.5199_5202del	ENSP00000413996.2:p.Ser1733ArgfsTer?
ENST00000450102.6:c.5199_5202del	ENSP00000403355.2:p.Ser1733ArgfsTer?
ENST00000451551.6:c.5199_5202del	ENSP00000388797.2:p.Ser1733ArgfsTer?
ENST00000455624.6:c.5262_5265del	ENSP00000399524.2:p.Ser1754ArgfsTer?
NM_000335.4:c.5358_5361del , LRG_289t2:c.5358_5361del	NP_000326.2:p.Ser1786ArgfsTer?
NM_001099404.1:c.5361_5364del , LRG_289t3:c.5361_5364del	NP_001092874.1:p.Ser1787ArgfsTer?
NM_001099405.1:c.5307_5310del	NP_001092875.1:p.Ser1769ArgfsTer?
NM_001160160.1:c.5262_5265del	NP_001153632.1:p.Ser1754ArgfsTer?
NM_001160161.1:c.5199_5202del	NP_001153633.1:p.Ser1733ArgfsTer?
NM_198056.2:c.5361_5364del , LRG_289t1:c.5361_5364del	NP_932173.1:p.Ser1787ArgfsTer?
XM_006713282.2:c.5361_5364del	XP_006713345.1:p.Ser1787ArgfsTer?
XM_011533991.1:c.5358_5361del	XP_011532293.1:p.Ser1786ArgfsTer?
XM_011533992.1:c.5232_5235del	XP_011532294.1:p.Ser1744ArgfsTer?
NM_001354701.1:c.5304_5307del	NP_001341630.1:p.Ser1768ArgfsTer?
XM_011533991.2:c.5358_5361del	XP_011532293.1:p.Ser1786ArgfsTer?
XM_017007017.1:c.5199_5202del	XP_016862506.1:p.Ser1733ArgfsTer?
NM_000335.5:c.5358_5361del MANE Select	NP_000326.2:p.Ser1786ArgfsTer?
NM_001160160.2:c.5262_5265del	NP_001153632.1:p.Ser1754ArgfsTer?
NM_001354701.2:c.5304_5307del	NP_001341630.1:p.Ser1768ArgfsTer?
NM_001099404.2:c.5361_5364del MANE Plus Clinical	NP_001092874.1:p.Ser1787ArgfsTer?
NM_001099405.2:c.5307_5310del	NP_001092875.1:p.Ser1769ArgfsTer?
NM_001160161.2:c.5199_5202del	NP_001153633.1:p.Ser1733ArgfsTer?
NM_198056.3:c.5361_5364del	NP_932173.1:p.Ser1787ArgfsTer?