Canonical Allele Identifier: CA1358563253

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 1011689
• ClinVar RCV Id: RCV001309526
• dbSNP Id: rs2061096389

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38554394_38554395delinsTT , CM000665.2:g.38554394_38554395delinsTT	GRCh38
NC_000003.11:g.38595885_38595886delinsTT , CM000665.1:g.38595885_38595886delinsTT	GRCh37
NC_000003.10:g.38570889_38570890delinsTT	NCBI36
NG_008934.1:g.100278_100279delinsAA , LRG_289:g.100278_100279delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4694_4695delinsAA	ENSP00000333674.7:p.Leu1565Gln
ENST00000333535.9:c.4697_4698delinsAA	ENSP00000328968.4:p.Leu1566Gln
ENST00000413689.6:c.4697_4698delinsAA MANE Plus Clinical	ENSP00000410257.1:p.Leu1566Gln
ENST00000423572.7:c.4694_4695delinsAA MANE Select	ENSP00000398266.2:p.Leu1565Gln
ENST00000333535.8:c.4697_4698delinsAA	ENSP00000328968.4:p.Leu1566Gln
ENST00000413689.5:c.4697_4698delinsAA	ENSP00000410257.1:p.Leu1566Gln
ENST00000414099.6:c.4643_4644delinsAA	ENSP00000398962.2:p.Leu1548Gln
ENST00000423572.6:c.4694_4695delinsAA	ENSP00000398266.2:p.Leu1565Gln
ENST00000425664.5:c.4643_4644delinsAA	ENSP00000416634.1:p.Leu1548Gln
ENST00000449557.6:c.4535_4536delinsAA	ENSP00000413996.2:p.Leu1512Gln
ENST00000450102.6:c.4535_4536delinsAA	ENSP00000403355.2:p.Leu1512Gln
ENST00000451551.6:c.4535_4536delinsAA	ENSP00000388797.2:p.Leu1512Gln
ENST00000455624.6:c.4694_4695delinsAA	ENSP00000399524.2:p.Leu1565Gln
ENST00000464652.1:n.155_156delinsAA
NM_000335.4:c.4694_4695delinsAA , LRG_289t2:c.4694_4695delinsAA	NP_000326.2:p.Leu1565Gln
NM_001099404.1:c.4697_4698delinsAA , LRG_289t3:c.4697_4698delinsAA	NP_001092874.1:p.Leu1566Gln
NM_001099405.1:c.4643_4644delinsAA	NP_001092875.1:p.Leu1548Gln
NM_001160160.1:c.4694_4695delinsAA	NP_001153632.1:p.Leu1565Gln
NM_001160161.1:c.4535_4536delinsAA	NP_001153633.1:p.Leu1512Gln
NM_198056.2:c.4697_4698delinsAA , LRG_289t1:c.4697_4698delinsAA	NP_932173.1:p.Leu1566Gln
XM_006713282.2:c.4697_4698delinsAA	XP_006713345.1:p.Leu1566Gln
XM_011533991.1:c.4694_4695delinsAA	XP_011532293.1:p.Leu1565Gln
XM_011533992.1:c.4568_4569delinsAA	XP_011532294.1:p.Leu1523Gln
NM_001354701.1:c.4640_4641delinsAA	NP_001341630.1:p.Leu1547Gln
XM_011533991.2:c.4694_4695delinsAA	XP_011532293.1:p.Leu1565Gln
XM_017007017.1:c.4535_4536delinsAA	XP_016862506.1:p.Leu1512Gln
NM_000335.5:c.4694_4695delinsAA MANE Select	NP_000326.2:p.Leu1565Gln
NM_001160160.2:c.4694_4695delinsAA	NP_001153632.1:p.Leu1565Gln
NM_001354701.2:c.4640_4641delinsAA	NP_001341630.1:p.Leu1547Gln
NM_001099404.2:c.4697_4698delinsAA MANE Plus Clinical	NP_001092874.1:p.Leu1566Gln
NM_001099405.2:c.4643_4644delinsAA	NP_001092875.1:p.Leu1548Gln
NM_001160161.2:c.4535_4536delinsAA	NP_001153633.1:p.Leu1512Gln
NM_198056.3:c.4697_4698delinsAA	NP_932173.1:p.Leu1566Gln