Canonical Allele Identifier: CA018943
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67960
ClinVar RCV Id: RCV000058746 RCV001753476
dbSNP Id: rs199473299
gnomAD v4: 3-38551208-T-C
MyVariant Identifiers: chr3:g.38592699T>C (hg19) chr3:g.38551208T>C (hg38)
PubMed: PMID:20031634 PMID:20129283 PMID:22581653
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38551208T>C , CM000665.2:g.38551208T>C GRCh38
NC_000003.11:g.38592699T>C , CM000665.1:g.38592699T>C GRCh37
NC_000003.10:g.38567703T>C NCBI36
NG_008934.1:g.103465A>G , LRG_289:g.103465A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327956.7:c.5161A>G ENSP00000333674.7:p.Asn1721Asp
ENST00000333535.9:c.5164A>G ENSP00000328968.4:p.Asn1722Asp
ENST00000413689.6:c.5164A>G MANE Plus Clinical ENSP00000410257.1:p.Asn1722Asp
ENST00000423572.7:c.5161A>G MANE Select ENSP00000398266.2:p.Asn1721Asp
ENST00000333535.8:c.5164A>G ENSP00000328968.4:p.Asn1722Asp
ENST00000413689.5:c.5164A>G ENSP00000410257.1:p.Asn1722Asp
ENST00000414099.6:c.5110A>G ENSP00000398962.2:p.Asn1704Asp
ENST00000423572.6:c.5161A>G ENSP00000398266.2:p.Asn1721Asp
ENST00000425664.5:c.5110A>G ENSP00000416634.1:p.Asn1704Asp
ENST00000449557.6:c.5002A>G ENSP00000413996.2:p.Asn1668Asp
ENST00000450102.6:c.5002A>G ENSP00000403355.2:p.Asn1668Asp
ENST00000451551.6:c.5002A>G ENSP00000388797.2:p.Asn1668Asp
ENST00000455624.6:c.5065A>G ENSP00000399524.2:p.Asn1689Asp
NM_000335.4:c.5161A>G , LRG_289t2:c.5161A>G NP_000326.2:p.Asn1721Asp
NM_001099404.1:c.5164A>G , LRG_289t3:c.5164A>G NP_001092874.1:p.Asn1722Asp
NM_001099405.1:c.5110A>G NP_001092875.1:p.Asn1704Asp
NM_001160160.1:c.5065A>G NP_001153632.1:p.Asn1689Asp
NM_001160161.1:c.5002A>G NP_001153633.1:p.Asn1668Asp
NM_198056.2:c.5164A>G , LRG_289t1:c.5164A>G NP_932173.1:p.Asn1722Asp
XM_006713282.2:c.5164A>G XP_006713345.1:p.Asn1722Asp
XM_011533991.1:c.5161A>G XP_011532293.1:p.Asn1721Asp
XM_011533992.1:c.5035A>G XP_011532294.1:p.Asn1679Asp
NM_001354701.1:c.5107A>G NP_001341630.1:p.Asn1703Asp
XM_011533991.2:c.5161A>G XP_011532293.1:p.Asn1721Asp
XM_017007017.1:c.5002A>G XP_016862506.1:p.Asn1668Asp
NM_000335.5:c.5161A>G MANE Select NP_000326.2:p.Asn1721Asp
NM_001160160.2:c.5065A>G NP_001153632.1:p.Asn1689Asp
NM_001354701.2:c.5107A>G NP_001341630.1:p.Asn1703Asp
NM_001099404.2:c.5164A>G MANE Plus Clinical NP_001092874.1:p.Asn1722Asp
NM_001099405.2:c.5110A>G NP_001092875.1:p.Asn1704Asp
NM_001160161.2:c.5002A>G NP_001153633.1:p.Asn1668Asp
NM_198056.3:c.5164A>G NP_932173.1:p.Asn1722Asp
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