Canonical Allele Identifier: CA014177

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 67626
• ClinVar RCV Id: RCV000058382 ; RCV000991046 ; RCV001841767 ; RCV001723640 ; RCV002362694 ; RCV002504968
• dbSNP Id: rs191009474
• ExAC: 3:38648281 C / T
• gnomAD v2: 3-38648281-C-T
• gnomAD v3: 3-38606790-C-T
• gnomAD v4: 3-38606790-C-T
• COSMIC: COSM4724166 ; COSM4724167 ; COSM4724168
• MyVariant Identifiers: chr3:g.38648281C>T (hg19) ; chr3:g.38606790C>T (hg38)
• PubMed: PMID:15176425 ; PMID:19862833 ; PMID:22581653 ; PMID:22685113

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38606790C>T , CM000665.2:g.38606790C>T	GRCh38
NC_000003.11:g.38648281C>T , CM000665.1:g.38648281C>T	GRCh37
NC_000003.10:g.38623285C>T	NCBI36
NG_008934.1:g.47883G>A , LRG_289:g.47883G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.1019G>A	ENSP00000333674.7:p.Arg340Gln
ENST00000333535.9:c.1019G>A	ENSP00000328968.4:p.Arg340Gln
ENST00000413689.6:c.1019G>A MANE Plus Clinical	ENSP00000410257.1:p.Arg340Gln
ENST00000423572.7:c.1019G>A MANE Select	ENSP00000398266.2:p.Arg340Gln
ENST00000333535.8:c.1019G>A	ENSP00000328968.4:p.Arg340Gln
ENST00000413689.5:c.1019G>A	ENSP00000410257.1:p.Arg340Gln
ENST00000414099.6:c.1019G>A	ENSP00000398962.2:p.Arg340Gln
ENST00000423572.6:c.1019G>A	ENSP00000398266.2:p.Arg340Gln
ENST00000425664.5:c.1019G>A	ENSP00000416634.1:p.Arg340Gln
ENST00000449557.6:c.1019G>A	ENSP00000413996.2:p.Arg340Gln
ENST00000450102.6:c.1019G>A	ENSP00000403355.2:p.Arg340Gln
ENST00000451551.6:c.1019G>A	ENSP00000388797.2:p.Arg340Gln
ENST00000455624.6:c.1019G>A	ENSP00000399524.2:p.Arg340Gln
NM_000335.4:c.1019G>A , LRG_289t2:c.1019G>A	NP_000326.2:p.Arg340Gln
NM_001099404.1:c.1019G>A , LRG_289t3:c.1019G>A	NP_001092874.1:p.Arg340Gln
NM_001099405.1:c.1019G>A	NP_001092875.1:p.Arg340Gln
NM_001160160.1:c.1019G>A	NP_001153632.1:p.Arg340Gln
NM_001160161.1:c.1019G>A	NP_001153633.1:p.Arg340Gln
NM_198056.2:c.1019G>A , LRG_289t1:c.1019G>A	NP_932173.1:p.Arg340Gln
XM_006713282.2:c.1019G>A	XP_006713345.1:p.Arg340Gln
XM_011533991.1:c.1019G>A	XP_011532293.1:p.Arg340Gln
XM_011533992.1:c.890G>A	XP_011532294.1:p.Arg297Gln
NM_001354701.1:c.1019G>A	NP_001341630.1:p.Arg340Gln
XM_011533991.2:c.1019G>A	XP_011532293.1:p.Arg340Gln
XM_017007017.1:c.1019G>A	XP_016862506.1:p.Arg340Gln
NM_000335.5:c.1019G>A MANE Select	NP_000326.2:p.Arg340Gln
NM_001160160.2:c.1019G>A	NP_001153632.1:p.Arg340Gln
NM_001354701.2:c.1019G>A	NP_001341630.1:p.Arg340Gln
NM_001099404.2:c.1019G>A MANE Plus Clinical	NP_001092874.1:p.Arg340Gln
NM_001099405.2:c.1019G>A	NP_001092875.1:p.Arg340Gln
NM_001160161.2:c.1019G>A	NP_001153633.1:p.Arg340Gln
NM_198056.3:c.1019G>A	NP_932173.1:p.Arg340Gln