Canonical Allele Identifier: CA542269464

Gene: SCN5A

Linked Data

• dbSNP Id: rs1392599649
• gnomAD v2: 3-38591826-C-CA
• gnomAD v4: 3-38550335-C-CA
• MyVariant Identifiers: chr3:g.38591826_38591827insA (hg19) ; chr3:g.38550335_38550336insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550336dup , CM000665.2:g.38550336dup	GRCh38
NC_000003.11:g.38591827dup , CM000665.1:g.38591827dup	GRCh37
NC_000003.10:g.38566831dup	NCBI36
NG_008934.1:g.104337dup , LRG_289:g.104337dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.6033dup	ENSP00000333674.7:p.Glu2012Ter
ENST00000333535.9:c.6036dup	ENSP00000328968.4:p.Glu2013Ter
ENST00000413689.6:c.6036dup MANE Plus Clinical	ENSP00000410257.1:p.Glu2013Ter
ENST00000423572.7:c.6033dup MANE Select	ENSP00000398266.2:p.Glu2012Ter
ENST00000333535.8:c.6036dup	ENSP00000328968.4:p.Glu2013Ter
ENST00000413689.5:c.6036dup	ENSP00000410257.1:p.Glu2013Ter
ENST00000414099.6:c.5982dup	ENSP00000398962.2:p.Glu1995Ter
ENST00000423572.6:c.6033dup	ENSP00000398266.2:p.Glu2012Ter
ENST00000425664.5:c.5982dup	ENSP00000416634.1:p.Glu1995Ter
ENST00000449557.6:c.5874dup	ENSP00000413996.2:p.Glu1959Ter
ENST00000450102.6:c.5874dup	ENSP00000403355.2:p.Glu1959Ter
ENST00000451551.6:c.5874dup	ENSP00000388797.2:p.Glu1959Ter
ENST00000455624.6:c.5937dup	ENSP00000399524.2:p.Glu1980Ter
NM_000335.4:c.6033dup , LRG_289t2:c.6033dup	NP_000326.2:p.Glu2012Ter
NM_001099404.1:c.6036dup , LRG_289t3:c.6036dup	NP_001092874.1:p.Glu2013Ter
NM_001099405.1:c.5982dup	NP_001092875.1:p.Glu1995Ter
NM_001160160.1:c.5937dup	NP_001153632.1:p.Glu1980Ter
NM_001160161.1:c.5874dup	NP_001153633.1:p.Glu1959Ter
NM_198056.2:c.6036dup , LRG_289t1:c.6036dup	NP_932173.1:p.Glu2013Ter
XM_006713282.2:c.6036dup	XP_006713345.1:p.Glu2013Ter
XM_011533991.1:c.6033dup	XP_011532293.1:p.Glu2012Ter
XM_011533992.1:c.5907dup	XP_011532294.1:p.Glu1970Ter
NM_001354701.1:c.5979dup	NP_001341630.1:p.Glu1994Ter
XM_011533991.2:c.6033dup	XP_011532293.1:p.Glu2012Ter
XM_017007017.1:c.5874dup	XP_016862506.1:p.Glu1959Ter
NM_000335.5:c.6033dup MANE Select	NP_000326.2:p.Glu2012Ter
NM_001160160.2:c.5937dup	NP_001153632.1:p.Glu1980Ter
NM_001354701.2:c.5979dup	NP_001341630.1:p.Glu1994Ter
NM_001099404.2:c.6036dup MANE Plus Clinical	NP_001092874.1:p.Glu2013Ter
NM_001099405.2:c.5982dup	NP_001092875.1:p.Glu1995Ter
NM_001160161.2:c.5874dup	NP_001153633.1:p.Glu1959Ter
NM_198056.3:c.6036dup	NP_932173.1:p.Glu2013Ter