Canonical Allele Identifier: CA913188086

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 920535
• ClinVar RCV Id: RCV001842769 ; RCV002491518 ; RCV003163406
• dbSNP Id: rs2061022221

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550915_38550917delinsGTT , CM000665.2:g.38550915_38550917delinsGTT	GRCh38
NC_000003.11:g.38592406_38592408delinsGTT , CM000665.1:g.38592406_38592408delinsGTT	GRCh37
NC_000003.10:g.38567410_38567412delinsGTT	NCBI36
NG_008934.1:g.103756_103758delinsAAC , LRG_289:g.103756_103758delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5452_5454delinsAAC	ENSP00000333674.7:p.Asp1818Asn
ENST00000333535.9:c.5455_5457delinsAAC	ENSP00000328968.4:p.Asp1819Asn
ENST00000413689.6:c.5455_5457delinsAAC MANE Plus Clinical	ENSP00000410257.1:p.Asp1819Asn
ENST00000423572.7:c.5452_5454delinsAAC MANE Select	ENSP00000398266.2:p.Asp1818Asn
ENST00000333535.8:c.5455_5457delinsAAC	ENSP00000328968.4:p.Asp1819Asn
ENST00000413689.5:c.5455_5457delinsAAC	ENSP00000410257.1:p.Asp1819Asn
ENST00000414099.6:c.5401_5403delinsAAC	ENSP00000398962.2:p.Asp1801Asn
ENST00000423572.6:c.5452_5454delinsAAC	ENSP00000398266.2:p.Asp1818Asn
ENST00000425664.5:c.5401_5403delinsAAC	ENSP00000416634.1:p.Asp1801Asn
ENST00000449557.6:c.5293_5295delinsAAC	ENSP00000413996.2:p.Asp1765Asn
ENST00000450102.6:c.5293_5295delinsAAC	ENSP00000403355.2:p.Asp1765Asn
ENST00000451551.6:c.5293_5295delinsAAC	ENSP00000388797.2:p.Asp1765Asn
ENST00000455624.6:c.5356_5358delinsAAC	ENSP00000399524.2:p.Asp1786Asn
NM_000335.4:c.5452_5454delinsAAC , LRG_289t2:c.5452_5454delinsAAC	NP_000326.2:p.Asp1818Asn
NM_001099404.1:c.5455_5457delinsAAC , LRG_289t3:c.5455_5457delinsAAC	NP_001092874.1:p.Asp1819Asn
NM_001099405.1:c.5401_5403delinsAAC	NP_001092875.1:p.Asp1801Asn
NM_001160160.1:c.5356_5358delinsAAC	NP_001153632.1:p.Asp1786Asn
NM_001160161.1:c.5293_5295delinsAAC	NP_001153633.1:p.Asp1765Asn
NM_198056.2:c.5455_5457delinsAAC , LRG_289t1:c.5455_5457delinsAAC	NP_932173.1:p.Asp1819Asn
XM_006713282.2:c.5455_5457delinsAAC	XP_006713345.1:p.Asp1819Asn
XM_011533991.1:c.5452_5454delinsAAC	XP_011532293.1:p.Asp1818Asn
XM_011533992.1:c.5326_5328delinsAAC	XP_011532294.1:p.Asp1776Asn
NM_001354701.1:c.5398_5400delinsAAC	NP_001341630.1:p.Asp1800Asn
XM_011533991.2:c.5452_5454delinsAAC	XP_011532293.1:p.Asp1818Asn
XM_017007017.1:c.5293_5295delinsAAC	XP_016862506.1:p.Asp1765Asn
NM_000335.5:c.5452_5454delinsAAC MANE Select	NP_000326.2:p.Asp1818Asn
NM_001160160.2:c.5356_5358delinsAAC	NP_001153632.1:p.Asp1786Asn
NM_001354701.2:c.5398_5400delinsAAC	NP_001341630.1:p.Asp1800Asn
NM_001099404.2:c.5455_5457delinsAAC MANE Plus Clinical	NP_001092874.1:p.Asp1819Asn
NM_001099405.2:c.5401_5403delinsAAC	NP_001092875.1:p.Asp1801Asn
NM_001160161.2:c.5293_5295delinsAAC	NP_001153633.1:p.Asp1765Asn
NM_198056.3:c.5455_5457delinsAAC	NP_932173.1:p.Asp1819Asn