Canonical Allele Identifier: CA018388
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 201571
ClinVar RCV Id: RCV002336463 RCV003318368
dbSNP Id: rs397514251
MyVariant Identifiers: chr3:g.38597162_38597170del (hg19) chr3:g.38555671_38555679del (hg38)
PubMed: PMID:7651517 PMID:10448858
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38555679_38555687del , CM000665.2:g.38555679_38555687del GRCh38
NC_000003.11:g.38597170_38597178del , CM000665.1:g.38597170_38597178del GRCh37
NC_000003.10:g.38572174_38572182del NCBI36
NG_008934.1:g.98994_99002del , LRG_289:g.98994_99002del

Transcript Alleles

HGVS Amino-acid change
ENST00000327956.7:c.4516_4524del ENSP00000333674.7:p.Gln1506_Pro1508del
ENST00000333535.9:c.4519_4527del ENSP00000328968.4:p.Gln1507_Pro1509del
ENST00000413689.6:c.4519_4527del MANE Plus Clinical ENSP00000410257.1:p.Gln1507_Pro1509del
ENST00000423572.7:c.4516_4524del MANE Select ENSP00000398266.2:p.Gln1506_Pro1508del
ENST00000333535.8:c.4519_4527del ENSP00000328968.4:p.Gln1507_Pro1509del
ENST00000413689.5:c.4519_4527del ENSP00000410257.1:p.Gln1507_Pro1509del
ENST00000414099.6:c.4465_4473del ENSP00000398962.2:p.Gln1489_Pro1491del
ENST00000423572.6:c.4516_4524del ENSP00000398266.2:p.Gln1506_Pro1508del
ENST00000425664.5:c.4465_4473del ENSP00000416634.1:p.Gln1489_Pro1491del
ENST00000449557.6:c.4357_4365del ENSP00000413996.2:p.Gln1453_Pro1455del
ENST00000450102.6:c.4357_4365del ENSP00000403355.2:p.Gln1453_Pro1455del
ENST00000451551.6:c.4357_4365del ENSP00000388797.2:p.Gln1453_Pro1455del
ENST00000455624.6:c.4516_4524del ENSP00000399524.2:p.Gln1506_Pro1508del
NM_000335.4:c.4516_4524del , LRG_289t2:c.4516_4524del NP_000326.2:p.Gln1506_Pro1508del
NM_001099404.1:c.4519_4527del , LRG_289t3:c.4519_4527del NP_001092874.1:p.Gln1507_Pro1509del
NM_001099405.1:c.4465_4473del NP_001092875.1:p.Gln1489_Pro1491del
NM_001160160.1:c.4516_4524del NP_001153632.1:p.Gln1506_Pro1508del
NM_001160161.1:c.4357_4365del NP_001153633.1:p.Gln1453_Pro1455del
NM_198056.2:c.4519_4527del , LRG_289t1:c.4519_4527del NP_932173.1:p.Gln1507_Pro1509del
XM_006713282.2:c.4519_4527del XP_006713345.1:p.Gln1507_Pro1509del
XM_011533991.1:c.4516_4524del XP_011532293.1:p.Gln1506_Pro1508del
XM_011533992.1:c.4390_4398del XP_011532294.1:p.Gln1464_Pro1466del
NM_001354701.1:c.4462_4470del NP_001341630.1:p.Gln1488_Pro1490del
XM_011533991.2:c.4516_4524del XP_011532293.1:p.Gln1506_Pro1508del
XM_017007017.1:c.4357_4365del XP_016862506.1:p.Gln1453_Pro1455del
NM_000335.5:c.4516_4524del MANE Select NP_000326.2:p.Gln1506_Pro1508del
NM_001160160.2:c.4516_4524del NP_001153632.1:p.Gln1506_Pro1508del
NM_001354701.2:c.4462_4470del NP_001341630.1:p.Gln1488_Pro1490del
NM_001099404.2:c.4519_4527del MANE Plus Clinical NP_001092874.1:p.Gln1507_Pro1509del
NM_001099405.2:c.4465_4473del NP_001092875.1:p.Gln1489_Pro1491del
NM_001160161.2:c.4357_4365del NP_001153633.1:p.Gln1453_Pro1455del
NM_198056.3:c.4519_4527del NP_932173.1:p.Gln1507_Pro1509del
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