Canonical Allele Identifier: CA72943562

Gene: SCN5A

Linked Data

• dbSNP Id: rs149702429
• MyVariant Identifiers: chr3:g.38598676_38598677insCAGGTGCCT (hg19) ; chr3:g.38557185_38557186insCAGGTGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38557186_38557187insAGGTGCCTC , CM000665.2:g.38557186_38557187insAGGTGCCTC	GRCh38
NC_000003.11:g.38598677_38598678insAGGTGCCTC , CM000665.1:g.38598677_38598678insAGGTGCCTC	GRCh37
NC_000003.10:g.38573681_38573682insAGGTGCCTC	NCBI36
NG_008934.1:g.97487_97488insAGGCACCTG , LRG_289:g.97487_97488insAGGCACCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4296+45_4296+46insAGGCACCTG	ENSP00000333674.7:n.4296+45_4296+46insAGGCACCTG
ENST00000333535.9:c.4299+45_4299+46insAGGCACCTG	ENSP00000328968.4:n.4299+45_4299+46insAGGCACCTG
ENST00000413689.6:c.4299+45_4299+46insAGGCACCTG MANE Plus Clinical	ENSP00000410257.1:n.4299+45_4299+46insAGGCACCTG
ENST00000423572.7:c.4296+45_4296+46insAGGCACCTG MANE Select	ENSP00000398266.2:n.4296+45_4296+46insAGGCACCTG
ENST00000333535.8:c.4299+45_4299+46insAGGCACCTG	ENSP00000328968.4:n.4299+45_4299+46insAGGCACCTG
ENST00000413689.5:c.4299+45_4299+46insAGGCACCTG	ENSP00000410257.1:n.4299+45_4299+46insAGGCACCTG
ENST00000414099.6:c.4246-608_4246-607insAGGCACCTG	ENSP00000398962.2:n.4246-608_4246-607insAGGCACCTG
ENST00000423572.6:c.4296+45_4296+46insAGGCACCTG	ENSP00000398266.2:n.4296+45_4296+46insAGGCACCTG
ENST00000425664.5:c.4246-608_4246-607insAGGCACCTG	ENSP00000416634.1:n.4246-608_4246-607insAGGCACCTG
ENST00000449557.6:c.4137+45_4137+46insAGGCACCTG	ENSP00000413996.2:n.4137+45_4137+46insAGGCACCTG
ENST00000450102.6:c.4137+45_4137+46insAGGCACCTG	ENSP00000403355.2:n.4137+45_4137+46insAGGCACCTG
ENST00000451551.6:c.4137+45_4137+46insAGGCACCTG	ENSP00000388797.2:n.4137+45_4137+46insAGGCACCTG
ENST00000455624.6:c.4296+45_4296+46insAGGCACCTG	ENSP00000399524.2:n.4296+45_4296+46insAGGCACCTG
NM_000335.4:c.4296+45_4296+46insAGGCACCTG , LRG_289t2:c.4296+45_4296+46insAGGCACCTG	NP_000326.2:n.4296+45_4296+46insAGGCACCTG
NM_001099404.1:c.4299+45_4299+46insAGGCACCTG , LRG_289t3:c.4299+45_4299+46insAGGCACCTG	NP_001092874.1:n.4299+45_4299+46insAGGCACCTG
NM_001099405.1:c.4246-608_4246-607insAGGCACCTG	NP_001092875.1:n.4246-608_4246-607insAGGCACCTG
NM_001160160.1:c.4296+45_4296+46insAGGCACCTG	NP_001153632.1:n.4296+45_4296+46insAGGCACCTG
NM_001160161.1:c.4137+45_4137+46insAGGCACCTG	NP_001153633.1:n.4137+45_4137+46insAGGCACCTG
NM_198056.2:c.4299+45_4299+46insAGGCACCTG , LRG_289t1:c.4299+45_4299+46insAGGCACCTG	NP_932173.1:n.4299+45_4299+46insAGGCACCTG
XM_006713282.2:c.4299+45_4299+46insAGGCACCTG	XP_006713345.1:n.4299+45_4299+46insAGGCACCTG
XM_011533991.1:c.4296+45_4296+46insAGGCACCTG	XP_011532293.1:n.4296+45_4296+46insAGGCACCTG
XM_011533992.1:c.4170+45_4170+46insAGGCACCTG	XP_011532294.1:n.4170+45_4170+46insAGGCACCTG
NM_001354701.1:c.4243-608_4243-607insAGGCACCTG	NP_001341630.1:n.4243-608_4243-607insAGGCACCTG
XM_011533991.2:c.4296+45_4296+46insAGGCACCTG	XP_011532293.1:n.4296+45_4296+46insAGGCACCTG
XM_017007017.1:c.4137+45_4137+46insAGGCACCTG	XP_016862506.1:n.4137+45_4137+46insAGGCACCTG
NM_000335.5:c.4296+45_4296+46insAGGCACCTG MANE Select	NP_000326.2:n.4296+45_4296+46insAGGCACCTG
NM_001160160.2:c.4296+45_4296+46insAGGCACCTG	NP_001153632.1:n.4296+45_4296+46insAGGCACCTG
NM_001354701.2:c.4243-608_4243-607insAGGCACCTG	NP_001341630.1:n.4243-608_4243-607insAGGCACCTG
NM_001099404.2:c.4299+45_4299+46insAGGCACCTG MANE Plus Clinical	NP_001092874.1:n.4299+45_4299+46insAGGCACCTG
NM_001099405.2:c.4246-608_4246-607insAGGCACCTG	NP_001092875.1:n.4246-608_4246-607insAGGCACCTG
NM_001160161.2:c.4137+45_4137+46insAGGCACCTG	NP_001153633.1:n.4137+45_4137+46insAGGCACCTG
NM_198056.3:c.4299+45_4299+46insAGGCACCTG	NP_932173.1:n.4299+45_4299+46insAGGCACCTG