Canonical Allele Identifier: CA018511
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67919
ClinVar RCV Id: RCV000058700
dbSNP Id: rs199473275

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38554347A>G , CM000665.2:g.38554347A>G GRCh38
NC_000003.11:g.38595838A>G , CM000665.1:g.38595838A>G GRCh37
NC_000003.10:g.38570842A>G NCBI36
NG_008934.1:g.100326T>C , LRG_289:g.100326T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000327956.7:c.4742T>C ENSP00000333674.7:p.Leu1581Pro
ENST00000333535.9:c.4745T>C ENSP00000328968.4:p.Leu1582Pro
ENST00000413689.6:c.4745T>C MANE Plus Clinical ENSP00000410257.1:p.Leu1582Pro
ENST00000423572.7:c.4742T>C MANE Select ENSP00000398266.2:p.Leu1581Pro
ENST00000333535.8:c.4745T>C ENSP00000328968.4:p.Leu1582Pro
ENST00000413689.5:c.4745T>C ENSP00000410257.1:p.Leu1582Pro
ENST00000414099.6:c.4691T>C ENSP00000398962.2:p.Leu1564Pro
ENST00000423572.6:c.4742T>C ENSP00000398266.2:p.Leu1581Pro
ENST00000425664.5:c.4691T>C ENSP00000416634.1:p.Leu1564Pro
ENST00000449557.6:c.4583T>C ENSP00000413996.2:p.Leu1528Pro
ENST00000450102.6:c.4583T>C ENSP00000403355.2:p.Leu1528Pro
ENST00000451551.6:c.4583T>C ENSP00000388797.2:p.Leu1528Pro
ENST00000455624.6:c.4714+28T>C ENSP00000399524.2:n.4714+28T>C
ENST00000464652.1:n.203T>C
NM_000335.4:c.4742T>C , LRG_289t2:c.4742T>C NP_000326.2:p.Leu1581Pro
NM_001099404.1:c.4745T>C , LRG_289t3:c.4745T>C NP_001092874.1:p.Leu1582Pro
NM_001099405.1:c.4691T>C NP_001092875.1:p.Leu1564Pro
NM_001160160.1:c.4714+28T>C NP_001153632.1:n.4714+28T>C
NM_001160161.1:c.4583T>C NP_001153633.1:p.Leu1528Pro
NM_198056.2:c.4745T>C , LRG_289t1:c.4745T>C NP_932173.1:p.Leu1582Pro
XM_006713282.2:c.4745T>C XP_006713345.1:p.Leu1582Pro
XM_011533991.1:c.4742T>C XP_011532293.1:p.Leu1581Pro
XM_011533992.1:c.4616T>C XP_011532294.1:p.Leu1539Pro
NM_001354701.1:c.4688T>C NP_001341630.1:p.Leu1563Pro
XM_011533991.2:c.4742T>C XP_011532293.1:p.Leu1581Pro
XM_017007017.1:c.4583T>C XP_016862506.1:p.Leu1528Pro
NM_000335.5:c.4742T>C MANE Select NP_000326.2:p.Leu1581Pro
NM_001160160.2:c.4714+28T>C NP_001153632.1:n.4714+28T>C
NM_001354701.2:c.4688T>C NP_001341630.1:p.Leu1563Pro
NM_001099404.2:c.4745T>C MANE Plus Clinical NP_001092874.1:p.Leu1582Pro
NM_001099405.2:c.4691T>C NP_001092875.1:p.Leu1564Pro
NM_001160161.2:c.4583T>C NP_001153633.1:p.Leu1528Pro
NM_198056.3:c.4745T>C NP_932173.1:p.Leu1582Pro