Canonical Allele Identifier: CA016076
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67727
ClinVar RCV Id: RCV000058496
dbSNP Id: rs199473158
MyVariant Identifiers: chr3:g.38629010G>A (hg19) chr3:g.38587519G>A (hg38)
PubMed: PMID:20129283 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38587519G>A , CM000665.2:g.38587519G>A GRCh38
NC_000003.11:g.38629010G>A , CM000665.1:g.38629010G>A GRCh37
NC_000003.10:g.38604014G>A NCBI36
NG_008934.1:g.67154C>T , LRG_289:g.67154C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327956.7:c.2317C>T ENSP00000333674.7:p.Pro773Ser
ENST00000333535.9:c.2317C>T ENSP00000328968.4:p.Pro773Ser
ENST00000413689.6:c.2317C>T MANE Plus Clinical ENSP00000410257.1:p.Pro773Ser
ENST00000423572.7:c.2317C>T MANE Select ENSP00000398266.2:p.Pro773Ser
ENST00000333535.8:c.2317C>T ENSP00000328968.4:p.Pro773Ser
ENST00000413689.5:c.2317C>T ENSP00000410257.1:p.Pro773Ser
ENST00000414099.6:c.2317C>T ENSP00000398962.2:p.Pro773Ser
ENST00000423572.6:c.2317C>T ENSP00000398266.2:p.Pro773Ser
ENST00000425664.5:c.2317C>T ENSP00000416634.1:p.Pro773Ser
ENST00000449557.6:c.2317C>T ENSP00000413996.2:p.Pro773Ser
ENST00000450102.6:c.2317C>T ENSP00000403355.2:p.Pro773Ser
ENST00000451551.6:c.2317C>T ENSP00000388797.2:p.Pro773Ser
ENST00000455624.6:c.2317C>T ENSP00000399524.2:p.Pro773Ser
NM_000335.4:c.2317C>T , LRG_289t2:c.2317C>T NP_000326.2:p.Pro773Ser
NM_001099404.1:c.2317C>T , LRG_289t3:c.2317C>T NP_001092874.1:p.Pro773Ser
NM_001099405.1:c.2317C>T NP_001092875.1:p.Pro773Ser
NM_001160160.1:c.2317C>T NP_001153632.1:p.Pro773Ser
NM_001160161.1:c.2317C>T NP_001153633.1:p.Pro773Ser
NM_198056.2:c.2317C>T , LRG_289t1:c.2317C>T NP_932173.1:p.Pro773Ser
XM_006713282.2:c.2317C>T XP_006713345.1:p.Pro773Ser
XM_011533991.1:c.2317C>T XP_011532293.1:p.Pro773Ser
XM_011533992.1:c.2188C>T XP_011532294.1:p.Pro730Ser
NM_001354701.1:c.2317C>T NP_001341630.1:p.Pro773Ser
XM_011533991.2:c.2317C>T XP_011532293.1:p.Pro773Ser
XM_017007017.1:c.2317C>T XP_016862506.1:p.Pro773Ser
NM_000335.5:c.2317C>T MANE Select NP_000326.2:p.Pro773Ser
NM_001160160.2:c.2317C>T NP_001153632.1:p.Pro773Ser
NM_001354701.2:c.2317C>T NP_001341630.1:p.Pro773Ser
NM_001099404.2:c.2317C>T MANE Plus Clinical NP_001092874.1:p.Pro773Ser
NM_001099405.2:c.2317C>T NP_001092875.1:p.Pro773Ser
NM_001160161.2:c.2317C>T NP_001153633.1:p.Pro773Ser
NM_198056.3:c.2317C>T NP_932173.1:p.Pro773Ser
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