Canonical Allele Identifier: CA018141
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67881
ClinVar RCV Id: RCV003556154
dbSNP Id: rs199473249
MyVariant Identifiers: chr3:g.38598048C>G (hg19) chr3:g.38556557C>G (hg38)
PubMed: PMID:20129283 PMID:22581653 PMID:24136861
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38556557C>G , CM000665.2:g.38556557C>G GRCh38
NC_000003.11:g.38598048C>G , CM000665.1:g.38598048C>G GRCh37
NC_000003.10:g.38573052C>G NCBI36
NG_008934.1:g.98116G>C , LRG_289:g.98116G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000327956.7:c.4318G>C ENSP00000333674.7:p.Glu1440Gln
ENST00000333535.9:c.4321G>C ENSP00000328968.4:p.Glu1441Gln
ENST00000413689.6:c.4321G>C MANE Plus Clinical ENSP00000410257.1:p.Glu1441Gln
ENST00000423572.7:c.4318G>C MANE Select ENSP00000398266.2:p.Glu1440Gln
ENST00000333535.8:c.4321G>C ENSP00000328968.4:p.Glu1441Gln
ENST00000413689.5:c.4321G>C ENSP00000410257.1:p.Glu1441Gln
ENST00000414099.6:c.4267G>C ENSP00000398962.2:p.Glu1423Gln
ENST00000423572.6:c.4318G>C ENSP00000398266.2:p.Glu1440Gln
ENST00000425664.5:c.4267G>C ENSP00000416634.1:p.Glu1423Gln
ENST00000449557.6:c.4159G>C ENSP00000413996.2:p.Glu1387Gln
ENST00000450102.6:c.4159G>C ENSP00000403355.2:p.Glu1387Gln
ENST00000451551.6:c.4159G>C ENSP00000388797.2:p.Glu1387Gln
ENST00000455624.6:c.4318G>C ENSP00000399524.2:p.Glu1440Gln
NM_000335.4:c.4318G>C , LRG_289t2:c.4318G>C NP_000326.2:p.Glu1440Gln
NM_001099404.1:c.4321G>C , LRG_289t3:c.4321G>C NP_001092874.1:p.Glu1441Gln
NM_001099405.1:c.4267G>C NP_001092875.1:p.Glu1423Gln
NM_001160160.1:c.4318G>C NP_001153632.1:p.Glu1440Gln
NM_001160161.1:c.4159G>C NP_001153633.1:p.Glu1387Gln
NM_198056.2:c.4321G>C , LRG_289t1:c.4321G>C NP_932173.1:p.Glu1441Gln
XM_006713282.2:c.4321G>C XP_006713345.1:p.Glu1441Gln
XM_011533991.1:c.4318G>C XP_011532293.1:p.Glu1440Gln
XM_011533992.1:c.4192G>C XP_011532294.1:p.Glu1398Gln
NM_001354701.1:c.4264G>C NP_001341630.1:p.Glu1422Gln
XM_011533991.2:c.4318G>C XP_011532293.1:p.Glu1440Gln
XM_017007017.1:c.4159G>C XP_016862506.1:p.Glu1387Gln
NM_000335.5:c.4318G>C MANE Select NP_000326.2:p.Glu1440Gln
NM_001160160.2:c.4318G>C NP_001153632.1:p.Glu1440Gln
NM_001354701.2:c.4264G>C NP_001341630.1:p.Glu1422Gln
NM_001099404.2:c.4321G>C MANE Plus Clinical NP_001092874.1:p.Glu1441Gln
NM_001099405.2:c.4267G>C NP_001092875.1:p.Glu1423Gln
NM_001160161.2:c.4159G>C NP_001153633.1:p.Glu1387Gln
NM_198056.3:c.4321G>C NP_932173.1:p.Glu1441Gln
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