Canonical Allele Identifier: CA063039

Gene: SCN5A

Linked Data

• dbSNP Id: rs41313025
• ExAC: 3:38598675 AGCCTCAGGT / A
• gnomAD v2: 3-38598675-AGCCTCAGGT-A
• gnomAD v3: 3-38557184-AGCCTCAGGT-A
• gnomAD v4: 3-38557184-AGCCTCAGGT-A
• MyVariant Identifiers: chr3:g.38598676_38598684del (hg19) ; chr3:g.38557186_38557194del (hg38) ; chr3:g.38557185_38557193del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38557189_38557197del , CM000665.2:g.38557189_38557197del	GRCh38
NC_000003.11:g.38598680_38598688del , CM000665.1:g.38598680_38598688del	GRCh37
NC_000003.10:g.38573684_38573692del	NCBI36
NG_008934.1:g.97480_97488del , LRG_289:g.97480_97488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4296+38_4296+46del	ENSP00000333674.7:n.4296+38_4296+46del
ENST00000333535.9:c.4299+38_4299+46del	ENSP00000328968.4:n.4299+38_4299+46del
ENST00000413689.6:c.4299+38_4299+46del MANE Plus Clinical	ENSP00000410257.1:n.4299+38_4299+46del
ENST00000423572.7:c.4296+38_4296+46del MANE Select	ENSP00000398266.2:n.4296+38_4296+46del
ENST00000333535.8:c.4299+38_4299+46del	ENSP00000328968.4:n.4299+38_4299+46del
ENST00000413689.5:c.4299+38_4299+46del	ENSP00000410257.1:n.4299+38_4299+46del
ENST00000414099.6:c.4246-615_4246-607del	ENSP00000398962.2:n.4246-615_4246-607del
ENST00000423572.6:c.4296+38_4296+46del	ENSP00000398266.2:n.4296+38_4296+46del
ENST00000425664.5:c.4246-615_4246-607del	ENSP00000416634.1:n.4246-615_4246-607del
ENST00000449557.6:c.4137+38_4137+46del	ENSP00000413996.2:n.4137+38_4137+46del
ENST00000450102.6:c.4137+38_4137+46del	ENSP00000403355.2:n.4137+38_4137+46del
ENST00000451551.6:c.4137+38_4137+46del	ENSP00000388797.2:n.4137+38_4137+46del
ENST00000455624.6:c.4296+38_4296+46del	ENSP00000399524.2:n.4296+38_4296+46del
NM_000335.4:c.4296+38_4296+46del , LRG_289t2:c.4296+38_4296+46del	NP_000326.2:n.4296+38_4296+46del
NM_001099404.1:c.4299+38_4299+46del , LRG_289t3:c.4299+38_4299+46del	NP_001092874.1:n.4299+38_4299+46del
NM_001099405.1:c.4246-615_4246-607del	NP_001092875.1:n.4246-615_4246-607del
NM_001160160.1:c.4296+38_4296+46del	NP_001153632.1:n.4296+38_4296+46del
NM_001160161.1:c.4137+38_4137+46del	NP_001153633.1:n.4137+38_4137+46del
NM_198056.2:c.4299+38_4299+46del , LRG_289t1:c.4299+38_4299+46del	NP_932173.1:n.4299+38_4299+46del
XM_006713282.2:c.4299+38_4299+46del	XP_006713345.1:n.4299+38_4299+46del
XM_011533991.1:c.4296+38_4296+46del	XP_011532293.1:n.4296+38_4296+46del
XM_011533992.1:c.4170+38_4170+46del	XP_011532294.1:n.4170+38_4170+46del
NM_001354701.1:c.4243-615_4243-607del	NP_001341630.1:n.4243-615_4243-607del
XM_011533991.2:c.4296+38_4296+46del	XP_011532293.1:n.4296+38_4296+46del
XM_017007017.1:c.4137+38_4137+46del	XP_016862506.1:n.4137+38_4137+46del
NM_000335.5:c.4296+38_4296+46del MANE Select	NP_000326.2:n.4296+38_4296+46del
NM_001160160.2:c.4296+38_4296+46del	NP_001153632.1:n.4296+38_4296+46del
NM_001354701.2:c.4243-615_4243-607del	NP_001341630.1:n.4243-615_4243-607del
NM_001099404.2:c.4299+38_4299+46del MANE Plus Clinical	NP_001092874.1:n.4299+38_4299+46del
NM_001099405.2:c.4246-615_4246-607del	NP_001092875.1:n.4246-615_4246-607del
NM_001160161.2:c.4137+38_4137+46del	NP_001153633.1:n.4137+38_4137+46del
NM_198056.3:c.4299+38_4299+46del	NP_932173.1:n.4299+38_4299+46del