Canonical Allele Identifier: CA16617947
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 423108
ClinVar RCV Id: RCV000479877 RCV001380691
dbSNP Id: rs1064796233
MyVariant Identifiers: chr3:g.38601689del (hg19) chr3:g.38560198del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38560198del , CM000665.2:g.38560198del GRCh38
NC_000003.11:g.38601689del , CM000665.1:g.38601689del GRCh37
NC_000003.10:g.38576693del NCBI36
NG_008934.1:g.94475del , LRG_289:g.94475del

Transcript Alleles

HGVS Amino-acid change
ENST00000327956.7:c.4191del ENSP00000333674.7:p.Val1399SerfsTer?
ENST00000333535.9:c.4194del ENSP00000328968.4:p.Val1400SerfsTer?
ENST00000413689.6:c.4194del MANE Plus Clinical ENSP00000410257.1:p.Val1400SerfsTer?
ENST00000423572.7:c.4191del MANE Select ENSP00000398266.2:p.Val1399SerfsTer?
ENST00000333535.8:c.4194del ENSP00000328968.4:p.Val1400SerfsTer?
ENST00000413689.5:c.4194del ENSP00000410257.1:p.Val1400SerfsTer?
ENST00000414099.6:c.4194del ENSP00000398962.2:p.Val1400SerfsTer?
ENST00000423572.6:c.4191del ENSP00000398266.2:p.Val1399SerfsTer?
ENST00000425664.5:c.4194del ENSP00000416634.1:p.Val1400SerfsTer?
ENST00000449557.6:c.4032del ENSP00000413996.2:p.Val1346SerfsTer?
ENST00000450102.6:c.4032del ENSP00000403355.2:p.Val1346SerfsTer?
ENST00000451551.6:c.4032del ENSP00000388797.2:p.Val1346SerfsTer?
ENST00000455624.6:c.4191del ENSP00000399524.2:p.Val1399SerfsTer?
NM_000335.4:c.4191del , LRG_289t2:c.4191del NP_000326.2:p.Val1399SerfsTer?
NM_001099404.1:c.4194del , LRG_289t3:c.4194del NP_001092874.1:p.Val1400SerfsTer?
NM_001099405.1:c.4194del NP_001092875.1:p.Val1400SerfsTer?
NM_001160160.1:c.4191del NP_001153632.1:p.Val1399SerfsTer?
NM_001160161.1:c.4032del NP_001153633.1:p.Val1346SerfsTer?
NM_198056.2:c.4194del , LRG_289t1:c.4194del NP_932173.1:p.Val1400SerfsTer?
XM_006713282.2:c.4194del XP_006713345.1:p.Val1400SerfsTer?
XM_011533991.1:c.4191del XP_011532293.1:p.Val1399SerfsTer?
XM_011533992.1:c.4065del XP_011532294.1:p.Val1357SerfsTer?
NM_001354701.1:c.4191del NP_001341630.1:p.Val1399SerfsTer?
XM_011533991.2:c.4191del XP_011532293.1:p.Val1399SerfsTer?
XM_017007017.1:c.4032del XP_016862506.1:p.Val1346SerfsTer?
NM_000335.5:c.4191del MANE Select NP_000326.2:p.Val1399SerfsTer?
NM_001160160.2:c.4191del NP_001153632.1:p.Val1399SerfsTer?
NM_001354701.2:c.4191del NP_001341630.1:p.Val1399SerfsTer?
NM_001099404.2:c.4194del MANE Plus Clinical NP_001092874.1:p.Val1400SerfsTer?
NM_001099405.2:c.4194del NP_001092875.1:p.Val1400SerfsTer?
NM_001160161.2:c.4032del NP_001153633.1:p.Val1346SerfsTer?
NM_198056.3:c.4194del NP_932173.1:p.Val1400SerfsTer?
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