Canonical Allele Identifier: CA018747
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67940
ClinVar RCV Id: RCV000058724 RCV000619189 RCV000999577 RCV003128576
dbSNP Id: rs199473624
gnomAD v4: 3-38551447-C-T
COSMIC: COSM5724692 COSM5724693 COSM5724694
MyVariant Identifiers: chr3:g.38592938C>T (hg19) chr3:g.38551447C>T (hg38)
PubMed: PMID:20129283 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38551447C>T , CM000665.2:g.38551447C>T GRCh38
NC_000003.11:g.38592938C>T , CM000665.1:g.38592938C>T GRCh37
NC_000003.10:g.38567942C>T NCBI36
NG_008934.1:g.103226G>A , LRG_289:g.103226G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327956.7:c.4922G>A ENSP00000333674.7:p.Gly1641Glu
ENST00000333535.9:c.4925G>A ENSP00000328968.4:p.Gly1642Glu
ENST00000413689.6:c.4925G>A MANE Plus Clinical ENSP00000410257.1:p.Gly1642Glu
ENST00000423572.7:c.4922G>A MANE Select ENSP00000398266.2:p.Gly1641Glu
ENST00000333535.8:c.4925G>A ENSP00000328968.4:p.Gly1642Glu
ENST00000413689.5:c.4925G>A ENSP00000410257.1:p.Gly1642Glu
ENST00000414099.6:c.4871G>A ENSP00000398962.2:p.Gly1624Glu
ENST00000423572.6:c.4922G>A ENSP00000398266.2:p.Gly1641Glu
ENST00000425664.5:c.4871G>A ENSP00000416634.1:p.Gly1624Glu
ENST00000449557.6:c.4763G>A ENSP00000413996.2:p.Gly1588Glu
ENST00000450102.6:c.4763G>A ENSP00000403355.2:p.Gly1588Glu
ENST00000451551.6:c.4763G>A ENSP00000388797.2:p.Gly1588Glu
ENST00000455624.6:c.4826G>A ENSP00000399524.2:p.Gly1609Glu
NM_000335.4:c.4922G>A , LRG_289t2:c.4922G>A NP_000326.2:p.Gly1641Glu
NM_001099404.1:c.4925G>A , LRG_289t3:c.4925G>A NP_001092874.1:p.Gly1642Glu
NM_001099405.1:c.4871G>A NP_001092875.1:p.Gly1624Glu
NM_001160160.1:c.4826G>A NP_001153632.1:p.Gly1609Glu
NM_001160161.1:c.4763G>A NP_001153633.1:p.Gly1588Glu
NM_198056.2:c.4925G>A , LRG_289t1:c.4925G>A NP_932173.1:p.Gly1642Glu
XM_006713282.2:c.4925G>A XP_006713345.1:p.Gly1642Glu
XM_011533991.1:c.4922G>A XP_011532293.1:p.Gly1641Glu
XM_011533992.1:c.4796G>A XP_011532294.1:p.Gly1599Glu
NM_001354701.1:c.4868G>A NP_001341630.1:p.Gly1623Glu
XM_011533991.2:c.4922G>A XP_011532293.1:p.Gly1641Glu
XM_017007017.1:c.4763G>A XP_016862506.1:p.Gly1588Glu
NM_000335.5:c.4922G>A MANE Select NP_000326.2:p.Gly1641Glu
NM_001160160.2:c.4826G>A NP_001153632.1:p.Gly1609Glu
NM_001354701.2:c.4868G>A NP_001341630.1:p.Gly1623Glu
NM_001099404.2:c.4925G>A MANE Plus Clinical NP_001092874.1:p.Gly1642Glu
NM_001099405.2:c.4871G>A NP_001092875.1:p.Gly1624Glu
NM_001160161.2:c.4763G>A NP_001153633.1:p.Gly1588Glu
NM_198056.3:c.4925G>A NP_932173.1:p.Gly1642Glu
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