Canonical Allele Identifier: CA542270126

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 1327132
• ClinVar RCV Id: RCV001787415 ; RCV002329758 ; RCV003394255 ; RCV003542346
• dbSNP Id: rs1450434935
• gnomAD v2: 3-38598720-AC-A
• gnomAD v4: 3-38557229-AC-A
• COSMIC: COSM4724127 ; COSM4724128 ; COSM4724129
• MyVariant Identifiers: chr3:g.38598721del (hg19) ; chr3:g.38557230del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38557235del , CM000665.2:g.38557235del	GRCh38
NC_000003.11:g.38598726del , CM000665.1:g.38598726del	GRCh37
NC_000003.10:g.38573730del	NCBI36
NG_008934.1:g.97443del , LRG_289:g.97443del

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.4296+1del
ENST00000333535.9:c.4299+1del
ENST00000413689.6:c.4299+1del
ENST00000423572.7:c.4296+1del
ENST00000333535.8:c.4299+1del
ENST00000413689.5:c.4299+1del
ENST00000414099.6:c.4246-652del	ENSP00000398962.2:n.4246-652del
ENST00000423572.6:c.4296+1del
ENST00000425664.5:c.4246-652del	ENSP00000416634.1:n.4246-652del
ENST00000449557.6:c.4137+1del
ENST00000450102.6:c.4137+1del
ENST00000451551.6:c.4137+1del
ENST00000455624.6:c.4296+1del
NM_000335.4:c.4296+1del , LRG_289t2:c.4296+1del
NM_001099404.1:c.4299+1del , LRG_289t3:c.4299+1del
NM_001099405.1:c.4246-652del	NP_001092875.1:n.4246-652del
NM_001160160.1:c.4296+1del
NM_001160161.1:c.4137+1del
NM_198056.2:c.4299+1del , LRG_289t1:c.4299+1del
XM_006713282.2:c.4299+1del
XM_011533991.1:c.4296+1del
XM_011533992.1:c.4170+1del
NM_001354701.1:c.4243-652del	NP_001341630.1:n.4243-652del
XM_011533991.2:c.4296+1del
XM_017007017.1:c.4137+1del
NM_000335.5:c.4296+1del
NM_001160160.2:c.4296+1del
NM_001354701.2:c.4243-652del	NP_001341630.1:n.4243-652del
NM_001099404.2:c.4299+1del
NM_001099405.2:c.4246-652del	NP_001092875.1:n.4246-652del
NM_001160161.2:c.4137+1del
NM_198056.3:c.4299+1del