Canonical Allele Identifier: CA10586350
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 254156
ClinVar RCV Id: RCV000240623 RCV001843012 RCV002518553
dbSNP Id: rs886037903
gnomAD v4: 3-38551014-CAG-C
MyVariant Identifiers: chr3:g.38592506_38592507del (hg19) chr3:g.38551015_38551016del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38551015_38551016del , CM000665.2:g.38551015_38551016del GRCh38
NC_000003.11:g.38592506_38592507del , CM000665.1:g.38592506_38592507del GRCh37
NC_000003.10:g.38567510_38567511del NCBI36
NG_008934.1:g.103657_103658del , LRG_289:g.103657_103658del

Transcript Alleles

HGVS Amino-acid change
ENST00000327956.7:c.5353_5354del ENSP00000333674.7:p.Leu1785GlufsTer2
ENST00000333535.9:c.5356_5357del ENSP00000328968.4:p.Leu1786GlufsTer2
ENST00000413689.6:c.5356_5357del MANE Plus Clinical ENSP00000410257.1:p.Leu1786GlufsTer2
ENST00000423572.7:c.5353_5354del MANE Select ENSP00000398266.2:p.Leu1785GlufsTer2
ENST00000333535.8:c.5356_5357del ENSP00000328968.4:p.Leu1786GlufsTer2
ENST00000413689.5:c.5356_5357del ENSP00000410257.1:p.Leu1786GlufsTer2
ENST00000414099.6:c.5302_5303del ENSP00000398962.2:p.Leu1768GlufsTer2
ENST00000423572.6:c.5353_5354del ENSP00000398266.2:p.Leu1785GlufsTer2
ENST00000425664.5:c.5302_5303del ENSP00000416634.1:p.Leu1768GlufsTer2
ENST00000449557.6:c.5194_5195del ENSP00000413996.2:p.Leu1732GlufsTer2
ENST00000450102.6:c.5194_5195del ENSP00000403355.2:p.Leu1732GlufsTer2
ENST00000451551.6:c.5194_5195del ENSP00000388797.2:p.Leu1732GlufsTer2
ENST00000455624.6:c.5257_5258del ENSP00000399524.2:p.Leu1753GlufsTer2
NM_000335.4:c.5353_5354del , LRG_289t2:c.5353_5354del NP_000326.2:p.Leu1785GlufsTer2
NM_001099404.1:c.5356_5357del , LRG_289t3:c.5356_5357del NP_001092874.1:p.Leu1786GlufsTer2
NM_001099405.1:c.5302_5303del NP_001092875.1:p.Leu1768GlufsTer2
NM_001160160.1:c.5257_5258del NP_001153632.1:p.Leu1753GlufsTer2
NM_001160161.1:c.5194_5195del NP_001153633.1:p.Leu1732GlufsTer2
NM_198056.2:c.5356_5357del , LRG_289t1:c.5356_5357del NP_932173.1:p.Leu1786GlufsTer2
XM_006713282.2:c.5356_5357del XP_006713345.1:p.Leu1786GlufsTer2
XM_011533991.1:c.5353_5354del XP_011532293.1:p.Leu1785GlufsTer2
XM_011533992.1:c.5227_5228del XP_011532294.1:p.Leu1743GlufsTer2
NM_001354701.1:c.5299_5300del NP_001341630.1:p.Leu1767GlufsTer2
XM_011533991.2:c.5353_5354del XP_011532293.1:p.Leu1785GlufsTer2
XM_017007017.1:c.5194_5195del XP_016862506.1:p.Leu1732GlufsTer2
NM_000335.5:c.5353_5354del MANE Select NP_000326.2:p.Leu1785GlufsTer2
NM_001160160.2:c.5257_5258del NP_001153632.1:p.Leu1753GlufsTer2
NM_001354701.2:c.5299_5300del NP_001341630.1:p.Leu1767GlufsTer2
NM_001099404.2:c.5356_5357del MANE Plus Clinical NP_001092874.1:p.Leu1786GlufsTer2
NM_001099405.2:c.5302_5303del NP_001092875.1:p.Leu1768GlufsTer2
NM_001160161.2:c.5194_5195del NP_001153633.1:p.Leu1732GlufsTer2
NM_198056.3:c.5356_5357del NP_932173.1:p.Leu1786GlufsTer2
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