Canonical Allele Identifier: CA017612
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67835
ClinVar RCV Id: RCV000058613 RCV000148846 RCV000470787 RCV000496069 RCV000618218 RCV000725469 RCV000824759 RCV000987206 RCV000993797 RCV001147536 RCV001842354
dbSNP Id: rs199473603
ExAC: 3:38603958 G / A
gnomAD v2: 3-38603958-G-A
gnomAD v3: 3-38562467-G-A
gnomAD v4: 3-38562467-G-A
MyVariant Identifiers: chr3:g.38603958G>A (hg19) chr3:g.38562467G>A (hg38)
PubMed: PMID:10508990 PMID:10961955 PMID:10973849 PMID:17210839 PMID:17210841 PMID:17646591 PMID:18451998 PMID:19716085 PMID:19841300 PMID:22378279 PMID:22581653 PMID:22685113 PMID:23465283 PMID:23891399 PMID:24055113 PMID:24144883 PMID:24613995 PMID:24631775 PMID:25210526 PMID:25351510 PMID:25410959 PMID:25637381 PMID:25904541 PMID:26743238 PMID:26746457 PMID:26822237 PMID:28412158
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38562467G>A , CM000665.2:g.38562467G>A GRCh38
NC_000003.11:g.38603958G>A , CM000665.1:g.38603958G>A GRCh37
NC_000003.10:g.38578962G>A NCBI36
NG_008934.1:g.92206C>T , LRG_289:g.92206C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327956.7:c.3908C>T ENSP00000333674.7:p.Thr1303Met
ENST00000333535.9:c.3911C>T ENSP00000328968.4:p.Thr1304Met
ENST00000413689.6:c.3911C>T MANE Plus Clinical ENSP00000410257.1:p.Thr1304Met
ENST00000423572.7:c.3908C>T MANE Select ENSP00000398266.2:p.Thr1303Met
ENST00000333535.8:c.3911C>T ENSP00000328968.4:p.Thr1304Met
ENST00000413689.5:c.3911C>T ENSP00000410257.1:p.Thr1304Met
ENST00000414099.6:c.3911C>T ENSP00000398962.2:p.Thr1304Met
ENST00000423572.6:c.3908C>T ENSP00000398266.2:p.Thr1303Met
ENST00000425664.5:c.3911C>T ENSP00000416634.1:p.Thr1304Met
ENST00000449557.6:c.3749C>T ENSP00000413996.2:p.Thr1250Met
ENST00000450102.6:c.3749C>T ENSP00000403355.2:p.Thr1250Met
ENST00000451551.6:c.3749C>T ENSP00000388797.2:p.Thr1250Met
ENST00000455624.6:c.3908C>T ENSP00000399524.2:p.Thr1303Met
NM_000335.4:c.3908C>T , LRG_289t2:c.3908C>T NP_000326.2:p.Thr1303Met
NM_001099404.1:c.3911C>T , LRG_289t3:c.3911C>T NP_001092874.1:p.Thr1304Met
NM_001099405.1:c.3911C>T NP_001092875.1:p.Thr1304Met
NM_001160160.1:c.3908C>T NP_001153632.1:p.Thr1303Met
NM_001160161.1:c.3749C>T NP_001153633.1:p.Thr1250Met
NM_198056.2:c.3911C>T , LRG_289t1:c.3911C>T NP_932173.1:p.Thr1304Met
XM_006713282.2:c.3911C>T XP_006713345.1:p.Thr1304Met
XM_011533991.1:c.3908C>T XP_011532293.1:p.Thr1303Met
XM_011533992.1:c.3782C>T XP_011532294.1:p.Thr1261Met
NM_001354701.1:c.3908C>T NP_001341630.1:p.Thr1303Met
XM_011533991.2:c.3908C>T XP_011532293.1:p.Thr1303Met
XM_017007017.1:c.3749C>T XP_016862506.1:p.Thr1250Met
NM_000335.5:c.3908C>T MANE Select NP_000326.2:p.Thr1303Met
NM_001160160.2:c.3908C>T NP_001153632.1:p.Thr1303Met
NM_001354701.2:c.3908C>T NP_001341630.1:p.Thr1303Met
NM_001099404.2:c.3911C>T MANE Plus Clinical NP_001092874.1:p.Thr1304Met
NM_001099405.2:c.3911C>T NP_001092875.1:p.Thr1304Met
NM_001160161.2:c.3749C>T NP_001153633.1:p.Thr1250Met
NM_198056.3:c.3911C>T NP_932173.1:p.Thr1304Met
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