Canonical Allele Identifier: CA16617941
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 420342
ClinVar RCV Id: RCV000485823
dbSNP Id: rs1064794424

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38550842_38550845dup , CM000665.2:g.38550842_38550845dup GRCh38
NC_000003.11:g.38592333_38592336dup , CM000665.1:g.38592333_38592336dup GRCh37
NC_000003.10:g.38567337_38567340dup NCBI36
NG_008934.1:g.103831_103834dup , LRG_289:g.103831_103834dup

Transcript Alleles

HGVS Amino-acid change
ENST00000327956.7:c.5527_5530dup ENSP00000333674.7:p.Gly1844GlufsTer?
ENST00000333535.9:c.5530_5533dup ENSP00000328968.4:p.Gly1845GlufsTer?
ENST00000413689.6:c.5530_5533dup MANE Plus Clinical ENSP00000410257.1:p.Gly1845GlufsTer?
ENST00000423572.7:c.5527_5530dup MANE Select ENSP00000398266.2:p.Gly1844GlufsTer?
ENST00000333535.8:c.5530_5533dup ENSP00000328968.4:p.Gly1845GlufsTer?
ENST00000413689.5:c.5530_5533dup ENSP00000410257.1:p.Gly1845GlufsTer?
ENST00000414099.6:c.5476_5479dup ENSP00000398962.2:p.Gly1827GlufsTer?
ENST00000423572.6:c.5527_5530dup ENSP00000398266.2:p.Gly1844GlufsTer?
ENST00000425664.5:c.5476_5479dup ENSP00000416634.1:p.Gly1827GlufsTer?
ENST00000449557.6:c.5368_5371dup ENSP00000413996.2:p.Gly1791GlufsTer?
ENST00000450102.6:c.5368_5371dup ENSP00000403355.2:p.Gly1791GlufsTer?
ENST00000451551.6:c.5368_5371dup ENSP00000388797.2:p.Gly1791GlufsTer?
ENST00000455624.6:c.5431_5434dup ENSP00000399524.2:p.Gly1812GlufsTer?
NM_000335.4:c.5527_5530dup , LRG_289t2:c.5527_5530dup NP_000326.2:p.Gly1844GlufsTer?
NM_001099404.1:c.5530_5533dup , LRG_289t3:c.5530_5533dup NP_001092874.1:p.Gly1845GlufsTer?
NM_001099405.1:c.5476_5479dup NP_001092875.1:p.Gly1827GlufsTer?
NM_001160160.1:c.5431_5434dup NP_001153632.1:p.Gly1812GlufsTer?
NM_001160161.1:c.5368_5371dup NP_001153633.1:p.Gly1791GlufsTer?
NM_198056.2:c.5530_5533dup , LRG_289t1:c.5530_5533dup NP_932173.1:p.Gly1845GlufsTer?
XM_006713282.2:c.5530_5533dup XP_006713345.1:p.Gly1845GlufsTer?
XM_011533991.1:c.5527_5530dup XP_011532293.1:p.Gly1844GlufsTer?
XM_011533992.1:c.5401_5404dup XP_011532294.1:p.Gly1802GlufsTer?
NM_001354701.1:c.5473_5476dup NP_001341630.1:p.Gly1826GlufsTer?
XM_011533991.2:c.5527_5530dup XP_011532293.1:p.Gly1844GlufsTer?
XM_017007017.1:c.5368_5371dup XP_016862506.1:p.Gly1791GlufsTer?
NM_000335.5:c.5527_5530dup MANE Select NP_000326.2:p.Gly1844GlufsTer?
NM_001160160.2:c.5431_5434dup NP_001153632.1:p.Gly1812GlufsTer?
NM_001354701.2:c.5473_5476dup NP_001341630.1:p.Gly1826GlufsTer?
NM_001099404.2:c.5530_5533dup MANE Plus Clinical NP_001092874.1:p.Gly1845GlufsTer?
NM_001099405.2:c.5476_5479dup NP_001092875.1:p.Gly1827GlufsTer?
NM_001160161.2:c.5368_5371dup NP_001153633.1:p.Gly1791GlufsTer?
NM_198056.3:c.5530_5533dup NP_932173.1:p.Gly1845GlufsTer?