Canonical Allele Identifier: CA017721

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 67844
• ClinVar RCV Id: RCV000058623 ; RCV000183056 ; RCV001255563 ; RCV002371902
• dbSNP Id: rs199473225
• MyVariant Identifiers: chr3:g.38601888G>A (hg19) ; chr3:g.38560397G>A (hg38)
• PubMed: PMID:14676229 ; PMID:15136511 ; PMID:17698727 ; PMID:18752142 ; PMID:20129283 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38560397G>A , CM000665.2:g.38560397G>A	GRCh38
NC_000003.11:g.38601888G>A , CM000665.1:g.38601888G>A	GRCh37
NC_000003.10:g.38576892G>A	NCBI36
NG_008934.1:g.94276C>T , LRG_289:g.94276C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.3992C>T	ENSP00000333674.7:p.Pro1331Leu
ENST00000333535.9:c.3995C>T	ENSP00000328968.4:p.Pro1332Leu
ENST00000413689.6:c.3995C>T MANE Plus Clinical	ENSP00000410257.1:p.Pro1332Leu
ENST00000423572.7:c.3992C>T MANE Select	ENSP00000398266.2:p.Pro1331Leu
ENST00000333535.8:c.3995C>T	ENSP00000328968.4:p.Pro1332Leu
ENST00000413689.5:c.3995C>T	ENSP00000410257.1:p.Pro1332Leu
ENST00000414099.6:c.3995C>T	ENSP00000398962.2:p.Pro1332Leu
ENST00000423572.6:c.3992C>T	ENSP00000398266.2:p.Pro1331Leu
ENST00000425664.5:c.3995C>T	ENSP00000416634.1:p.Pro1332Leu
ENST00000449557.6:c.3833C>T	ENSP00000413996.2:p.Pro1278Leu
ENST00000450102.6:c.3833C>T	ENSP00000403355.2:p.Pro1278Leu
ENST00000451551.6:c.3833C>T	ENSP00000388797.2:p.Pro1278Leu
ENST00000455624.6:c.3992C>T	ENSP00000399524.2:p.Pro1331Leu
NM_000335.4:c.3992C>T , LRG_289t2:c.3992C>T	NP_000326.2:p.Pro1331Leu
NM_001099404.1:c.3995C>T , LRG_289t3:c.3995C>T	NP_001092874.1:p.Pro1332Leu
NM_001099405.1:c.3995C>T	NP_001092875.1:p.Pro1332Leu
NM_001160160.1:c.3992C>T	NP_001153632.1:p.Pro1331Leu
NM_001160161.1:c.3833C>T	NP_001153633.1:p.Pro1278Leu
NM_198056.2:c.3995C>T , LRG_289t1:c.3995C>T	NP_932173.1:p.Pro1332Leu
XM_006713282.2:c.3995C>T	XP_006713345.1:p.Pro1332Leu
XM_011533991.1:c.3992C>T	XP_011532293.1:p.Pro1331Leu
XM_011533992.1:c.3866C>T	XP_011532294.1:p.Pro1289Leu
NM_001354701.1:c.3992C>T	NP_001341630.1:p.Pro1331Leu
XM_011533991.2:c.3992C>T	XP_011532293.1:p.Pro1331Leu
XM_017007017.1:c.3833C>T	XP_016862506.1:p.Pro1278Leu
NM_000335.5:c.3992C>T MANE Select	NP_000326.2:p.Pro1331Leu
NM_001160160.2:c.3992C>T	NP_001153632.1:p.Pro1331Leu
NM_001354701.2:c.3992C>T	NP_001341630.1:p.Pro1331Leu
NM_001099404.2:c.3995C>T MANE Plus Clinical	NP_001092874.1:p.Pro1332Leu
NM_001099405.2:c.3995C>T	NP_001092875.1:p.Pro1332Leu
NM_001160161.2:c.3833C>T	NP_001153633.1:p.Pro1278Leu
NM_198056.3:c.3995C>T	NP_932173.1:p.Pro1332Leu