Canonical Allele Identifier: CA542615522

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 520459
• ClinVar RCV Id: RCV000624731 ; RCV002343173 ; RCV002466547 ; RCV004002746
• dbSNP Id: rs1474459822
• gnomAD v2: 3-38592237-C-CCAT
• gnomAD v3: 3-38550746-C-CCAT
• gnomAD v4: 3-38550746-C-CCAT
• MyVariant Identifiers: chr3:g.38592238_38592240dup (hg19) ; chr3:g.38592237_38592238insCAT (hg19) ; chr3:g.38550747_38550749dup (hg38) ; chr3:g.38550746_38550747insCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550748_38550750dup , CM000665.2:g.38550748_38550750dup	GRCh38
NC_000003.11:g.38592239_38592241dup , CM000665.1:g.38592239_38592241dup	GRCh37
NC_000003.10:g.38567243_38567245dup	NCBI36
NG_008934.1:g.103924_103926dup , LRG_289:g.103924_103926dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5620_5622dup	ENSP00000333674.7:p.Met1874_Glu1875insMet
ENST00000333535.9:c.5623_5625dup	ENSP00000328968.4:p.Met1875_Glu1876insMet
ENST00000413689.6:c.5623_5625dup MANE Plus Clinical	ENSP00000410257.1:p.Met1875_Glu1876insMet
ENST00000423572.7:c.5620_5622dup MANE Select	ENSP00000398266.2:p.Met1874_Glu1875insMet
ENST00000333535.8:c.5623_5625dup	ENSP00000328968.4:p.Met1875_Glu1876insMet
ENST00000413689.5:c.5623_5625dup	ENSP00000410257.1:p.Met1875_Glu1876insMet
ENST00000414099.6:c.5569_5571dup	ENSP00000398962.2:p.Met1857_Glu1858insMet
ENST00000423572.6:c.5620_5622dup	ENSP00000398266.2:p.Met1874_Glu1875insMet
ENST00000425664.5:c.5569_5571dup	ENSP00000416634.1:p.Met1857_Glu1858insMet
ENST00000449557.6:c.5461_5463dup	ENSP00000413996.2:p.Met1821_Glu1822insMet
ENST00000450102.6:c.5461_5463dup	ENSP00000403355.2:p.Met1821_Glu1822insMet
ENST00000451551.6:c.5461_5463dup	ENSP00000388797.2:p.Met1821_Glu1822insMet
ENST00000455624.6:c.5524_5526dup	ENSP00000399524.2:p.Met1842_Glu1843insMet
NM_000335.4:c.5620_5622dup , LRG_289t2:c.5620_5622dup	NP_000326.2:p.Met1874_Glu1875insMet
NM_001099404.1:c.5623_5625dup , LRG_289t3:c.5623_5625dup	NP_001092874.1:p.Met1875_Glu1876insMet
NM_001099405.1:c.5569_5571dup	NP_001092875.1:p.Met1857_Glu1858insMet
NM_001160160.1:c.5524_5526dup	NP_001153632.1:p.Met1842_Glu1843insMet
NM_001160161.1:c.5461_5463dup	NP_001153633.1:p.Met1821_Glu1822insMet
NM_198056.2:c.5623_5625dup , LRG_289t1:c.5623_5625dup	NP_932173.1:p.Met1875_Glu1876insMet
XM_006713282.2:c.5623_5625dup	XP_006713345.1:p.Met1875_Glu1876insMet
XM_011533991.1:c.5620_5622dup	XP_011532293.1:p.Met1874_Glu1875insMet
XM_011533992.1:c.5494_5496dup	XP_011532294.1:p.Met1832_Glu1833insMet
NM_001354701.1:c.5566_5568dup	NP_001341630.1:p.Met1856_Glu1857insMet
XM_011533991.2:c.5620_5622dup	XP_011532293.1:p.Met1874_Glu1875insMet
XM_017007017.1:c.5461_5463dup	XP_016862506.1:p.Met1821_Glu1822insMet
NM_000335.5:c.5620_5622dup MANE Select	NP_000326.2:p.Met1874_Glu1875insMet
NM_001160160.2:c.5524_5526dup	NP_001153632.1:p.Met1842_Glu1843insMet
NM_001354701.2:c.5566_5568dup	NP_001341630.1:p.Met1856_Glu1857insMet
NM_001099404.2:c.5623_5625dup MANE Plus Clinical	NP_001092874.1:p.Met1875_Glu1876insMet
NM_001099405.2:c.5569_5571dup	NP_001092875.1:p.Met1857_Glu1858insMet
NM_001160161.2:c.5461_5463dup	NP_001153633.1:p.Met1821_Glu1822insMet
NM_198056.3:c.5623_5625dup	NP_932173.1:p.Met1875_Glu1876insMet