Canonical Allele Identifier: CA018194
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67888
ClinVar RCV Id: RCV001842363 RCV003541538
dbSNP Id: rs199473614
gnomAD v4: 3-38556491-T-A
MyVariant Identifiers: chr3:g.38597982T>A (hg19) chr3:g.38556491T>A (hg38)
PubMed: PMID:20129283 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38556491T>A , CM000665.2:g.38556491T>A GRCh38
NC_000003.11:g.38597982T>A , CM000665.1:g.38597982T>A GRCh37
NC_000003.10:g.38572986T>A NCBI36
NG_008934.1:g.98182A>T , LRG_289:g.98182A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327956.7:c.4384A>T ENSP00000333674.7:p.Asn1462Tyr
ENST00000333535.9:c.4387A>T ENSP00000328968.4:p.Asn1463Tyr
ENST00000413689.6:c.4387A>T MANE Plus Clinical ENSP00000410257.1:p.Asn1463Tyr
ENST00000423572.7:c.4384A>T MANE Select ENSP00000398266.2:p.Asn1462Tyr
ENST00000333535.8:c.4387A>T ENSP00000328968.4:p.Asn1463Tyr
ENST00000413689.5:c.4387A>T ENSP00000410257.1:p.Asn1463Tyr
ENST00000414099.6:c.4333A>T ENSP00000398962.2:p.Asn1445Tyr
ENST00000423572.6:c.4384A>T ENSP00000398266.2:p.Asn1462Tyr
ENST00000425664.5:c.4333A>T ENSP00000416634.1:p.Asn1445Tyr
ENST00000449557.6:c.4225A>T ENSP00000413996.2:p.Asn1409Tyr
ENST00000450102.6:c.4225A>T ENSP00000403355.2:p.Asn1409Tyr
ENST00000451551.6:c.4225A>T ENSP00000388797.2:p.Asn1409Tyr
ENST00000455624.6:c.4384A>T ENSP00000399524.2:p.Asn1462Tyr
NM_000335.4:c.4384A>T , LRG_289t2:c.4384A>T NP_000326.2:p.Asn1462Tyr
NM_001099404.1:c.4387A>T , LRG_289t3:c.4387A>T NP_001092874.1:p.Asn1463Tyr
NM_001099405.1:c.4333A>T NP_001092875.1:p.Asn1445Tyr
NM_001160160.1:c.4384A>T NP_001153632.1:p.Asn1462Tyr
NM_001160161.1:c.4225A>T NP_001153633.1:p.Asn1409Tyr
NM_198056.2:c.4387A>T , LRG_289t1:c.4387A>T NP_932173.1:p.Asn1463Tyr
XM_006713282.2:c.4387A>T XP_006713345.1:p.Asn1463Tyr
XM_011533991.1:c.4384A>T XP_011532293.1:p.Asn1462Tyr
XM_011533992.1:c.4258A>T XP_011532294.1:p.Asn1420Tyr
NM_001354701.1:c.4330A>T NP_001341630.1:p.Asn1444Tyr
XM_011533991.2:c.4384A>T XP_011532293.1:p.Asn1462Tyr
XM_017007017.1:c.4225A>T XP_016862506.1:p.Asn1409Tyr
NM_000335.5:c.4384A>T MANE Select NP_000326.2:p.Asn1462Tyr
NM_001160160.2:c.4384A>T NP_001153632.1:p.Asn1462Tyr
NM_001354701.2:c.4330A>T NP_001341630.1:p.Asn1444Tyr
NM_001099404.2:c.4387A>T MANE Plus Clinical NP_001092874.1:p.Asn1463Tyr
NM_001099405.2:c.4333A>T NP_001092875.1:p.Asn1445Tyr
NM_001160161.2:c.4225A>T NP_001153633.1:p.Asn1409Tyr
NM_198056.3:c.4387A>T NP_932173.1:p.Asn1463Tyr
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