Canonical Allele Identifier: CA019700

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 201438
• ClinVar RCV Id: RCV000182937 ; RCV000709764 ; RCV002362939 ; RCV002485217 ; RCV003591705 ; RCV003996808
• dbSNP Id: rs794728849
• gnomAD v4: 3-38613782-G-A
• COSMIC: COSM3593484 ; COSM3593485
• MyVariant Identifiers: chr3:g.38655273G>A (hg19) ; chr3:g.38613782G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38613782G>A , CM000665.2:g.38613782G>A	GRCh38
NC_000003.11:g.38655273G>A , CM000665.1:g.38655273G>A	GRCh37
NC_000003.10:g.38630277G>A	NCBI36
NG_008934.1:g.40891C>T , LRG_289:g.40891C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.664C>T	ENSP00000333674.7:p.Arg222Ter
ENST00000333535.9:c.664C>T	ENSP00000328968.4:p.Arg222Ter
ENST00000413689.6:c.703+193C>T MANE Plus Clinical	ENSP00000410257.1:n.703+193C>T
ENST00000423572.7:c.664C>T MANE Select	ENSP00000398266.2:p.Arg222Ter
ENST00000333535.8:c.664C>T	ENSP00000328968.4:p.Arg222Ter
ENST00000413689.5:c.703+193C>T	ENSP00000410257.1:n.703+193C>T
ENST00000414099.6:c.703+193C>T	ENSP00000398962.2:n.703+193C>T
ENST00000423572.6:c.664C>T	ENSP00000398266.2:p.Arg222Ter
ENST00000425664.5:c.703+193C>T	ENSP00000416634.1:n.703+193C>T
ENST00000449557.6:c.664C>T	ENSP00000413996.2:p.Arg222Ter
ENST00000450102.6:c.703+193C>T	ENSP00000403355.2:n.703+193C>T
ENST00000451551.6:c.703+193C>T	ENSP00000388797.2:n.703+193C>T
ENST00000455624.6:c.703+193C>T	ENSP00000399524.2:n.703+193C>T
NM_000335.4:c.664C>T , LRG_289t2:c.664C>T	NP_000326.2:p.Arg222Ter
NM_001099404.1:c.703+193C>T , LRG_289t3:c.703+193C>T	NP_001092874.1:n.703+193C>T
NM_001099405.1:c.703+193C>T	NP_001092875.1:n.703+193C>T
NM_001160160.1:c.703+193C>T	NP_001153632.1:n.703+193C>T
NM_001160161.1:c.703+193C>T	NP_001153633.1:n.703+193C>T
NM_198056.2:c.664C>T , LRG_289t1:c.664C>T	NP_932173.1:p.Arg222Ter
XM_006713282.2:c.664C>T	XP_006713345.1:p.Arg222Ter
XM_011533991.1:c.703+193C>T	XP_011532293.1:n.703+193C>T
XM_011533992.1:c.535C>T	XP_011532294.1:p.Arg179Ter
NM_001354701.1:c.703+193C>T	NP_001341630.1:n.703+193C>T
XM_011533991.2:c.703+193C>T	XP_011532293.1:n.703+193C>T
XM_017007017.1:c.664C>T	XP_016862506.1:p.Arg222Ter
NM_000335.5:c.664C>T MANE Select	NP_000326.2:p.Arg222Ter
NM_001160160.2:c.703+193C>T	NP_001153632.1:n.703+193C>T
NM_001354701.2:c.703+193C>T	NP_001341630.1:n.703+193C>T
NM_001099404.2:c.703+193C>T MANE Plus Clinical	NP_001092874.1:n.703+193C>T
NM_001099405.2:c.703+193C>T	NP_001092875.1:n.703+193C>T
NM_001160161.2:c.703+193C>T	NP_001153633.1:n.703+193C>T
NM_198056.3:c.664C>T	NP_932173.1:p.Arg222Ter