Canonical Allele Identifier: CA018030
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 201599
ClinVar RCV Id: RCV000183205 RCV002326987
dbSNP Id: rs794728943
MyVariant Identifiers: chr3:g.38598777del (hg19) chr3:g.38557286del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38557286del , CM000665.2:g.38557286del GRCh38
NC_000003.11:g.38598777del , CM000665.1:g.38598777del GRCh37
NC_000003.10:g.38573781del NCBI36
NG_008934.1:g.97387del , LRG_289:g.97387del

Transcript Alleles

HGVS Amino-acid change
ENST00000327956.7:c.4243-2del ENSP00000333674.7:n.4243-2del
ENST00000333535.9:c.4246-2del ENSP00000328968.4:n.4246-2del
ENST00000413689.6:c.4246-2del MANE Plus Clinical ENSP00000410257.1:n.4246-2del
ENST00000423572.7:c.4243-2del MANE Select ENSP00000398266.2:n.4243-2del
ENST00000333535.8:c.4246-2del ENSP00000328968.4:n.4246-2del
ENST00000413689.5:c.4246-2del ENSP00000410257.1:n.4246-2del
ENST00000414099.6:c.4246-708del ENSP00000398962.2:n.4246-708del
ENST00000423572.6:c.4243-2del ENSP00000398266.2:n.4243-2del
ENST00000425664.5:c.4246-708del ENSP00000416634.1:n.4246-708del
ENST00000449557.6:c.4084-2del ENSP00000413996.2:n.4084-2del
ENST00000450102.6:c.4084-2del ENSP00000403355.2:n.4084-2del
ENST00000451551.6:c.4084-2del ENSP00000388797.2:n.4084-2del
ENST00000455624.6:c.4243-2del ENSP00000399524.2:n.4243-2del
NM_000335.4:c.4243-2del , LRG_289t2:c.4243-2del NP_000326.2:n.4243-2del
NM_001099404.1:c.4246-2del , LRG_289t3:c.4246-2del NP_001092874.1:n.4246-2del
NM_001099405.1:c.4246-708del NP_001092875.1:n.4246-708del
NM_001160160.1:c.4243-2del NP_001153632.1:n.4243-2del
NM_001160161.1:c.4084-2del NP_001153633.1:n.4084-2del
NM_198056.2:c.4246-2del , LRG_289t1:c.4246-2del NP_932173.1:n.4246-2del
XM_006713282.2:c.4246-2del XP_006713345.1:n.4246-2del
XM_011533991.1:c.4243-2del XP_011532293.1:n.4243-2del
XM_011533992.1:c.4117-2del XP_011532294.1:n.4117-2del
NM_001354701.1:c.4243-708del NP_001341630.1:n.4243-708del
XM_011533991.2:c.4243-2del XP_011532293.1:n.4243-2del
XM_017007017.1:c.4084-2del XP_016862506.1:n.4084-2del
NM_000335.5:c.4243-2del MANE Select NP_000326.2:n.4243-2del
NM_001160160.2:c.4243-2del NP_001153632.1:n.4243-2del
NM_001354701.2:c.4243-708del NP_001341630.1:n.4243-708del
NM_001099404.2:c.4246-2del MANE Plus Clinical NP_001092874.1:n.4246-2del
NM_001099405.2:c.4246-708del NP_001092875.1:n.4246-708del
NM_001160161.2:c.4084-2del NP_001153633.1:n.4084-2del
NM_198056.3:c.4246-2del NP_932173.1:n.4246-2del
Search 100 bp 5'
Search 100 bp 3'