Canonical Allele Identifier: CA1358564231

Gene: SCN5A

Linked Data

• dbSNP Id: rs2061177564
• gnomAD v4: 3-38557316-T-TTTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38557319_38557322dup , CM000665.2:g.38557319_38557322dup	GRCh38
NC_000003.11:g.38598810_38598813dup , CM000665.1:g.38598810_38598813dup	GRCh37
NC_000003.10:g.38573814_38573817dup	NCBI36
NG_008934.1:g.97353_97356dup , LRG_289:g.97353_97356dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.4243-36_4243-33dup	ENSP00000333674.7:n.4243-36_4243-33dup
ENST00000333535.9:c.4246-36_4246-33dup	ENSP00000328968.4:n.4246-36_4246-33dup
ENST00000413689.6:c.4246-36_4246-33dup MANE Plus Clinical	ENSP00000410257.1:n.4246-36_4246-33dup
ENST00000423572.7:c.4243-36_4243-33dup MANE Select	ENSP00000398266.2:n.4243-36_4243-33dup
ENST00000333535.8:c.4246-36_4246-33dup	ENSP00000328968.4:n.4246-36_4246-33dup
ENST00000413689.5:c.4246-36_4246-33dup	ENSP00000410257.1:n.4246-36_4246-33dup
ENST00000414099.6:c.4246-742_4246-739dup	ENSP00000398962.2:n.4246-742_4246-739dup
ENST00000423572.6:c.4243-36_4243-33dup	ENSP00000398266.2:n.4243-36_4243-33dup
ENST00000425664.5:c.4246-742_4246-739dup	ENSP00000416634.1:n.4246-742_4246-739dup
ENST00000449557.6:c.4084-36_4084-33dup	ENSP00000413996.2:n.4084-36_4084-33dup
ENST00000450102.6:c.4084-36_4084-33dup	ENSP00000403355.2:n.4084-36_4084-33dup
ENST00000451551.6:c.4084-36_4084-33dup	ENSP00000388797.2:n.4084-36_4084-33dup
ENST00000455624.6:c.4243-36_4243-33dup	ENSP00000399524.2:n.4243-36_4243-33dup
NM_000335.4:c.4243-36_4243-33dup , LRG_289t2:c.4243-36_4243-33dup	NP_000326.2:n.4243-36_4243-33dup
NM_001099404.1:c.4246-36_4246-33dup , LRG_289t3:c.4246-36_4246-33dup	NP_001092874.1:n.4246-36_4246-33dup
NM_001099405.1:c.4246-742_4246-739dup	NP_001092875.1:n.4246-742_4246-739dup
NM_001160160.1:c.4243-36_4243-33dup	NP_001153632.1:n.4243-36_4243-33dup
NM_001160161.1:c.4084-36_4084-33dup	NP_001153633.1:n.4084-36_4084-33dup
NM_198056.2:c.4246-36_4246-33dup , LRG_289t1:c.4246-36_4246-33dup	NP_932173.1:n.4246-36_4246-33dup
XM_006713282.2:c.4246-36_4246-33dup	XP_006713345.1:n.4246-36_4246-33dup
XM_011533991.1:c.4243-36_4243-33dup	XP_011532293.1:n.4243-36_4243-33dup
XM_011533992.1:c.4117-36_4117-33dup	XP_011532294.1:n.4117-36_4117-33dup
NM_001354701.1:c.4243-742_4243-739dup	NP_001341630.1:n.4243-742_4243-739dup
XM_011533991.2:c.4243-36_4243-33dup	XP_011532293.1:n.4243-36_4243-33dup
XM_017007017.1:c.4084-36_4084-33dup	XP_016862506.1:n.4084-36_4084-33dup
NM_000335.5:c.4243-36_4243-33dup MANE Select	NP_000326.2:n.4243-36_4243-33dup
NM_001160160.2:c.4243-36_4243-33dup	NP_001153632.1:n.4243-36_4243-33dup
NM_001354701.2:c.4243-742_4243-739dup	NP_001341630.1:n.4243-742_4243-739dup
NM_001099404.2:c.4246-36_4246-33dup MANE Plus Clinical	NP_001092874.1:n.4246-36_4246-33dup
NM_001099405.2:c.4246-742_4246-739dup	NP_001092875.1:n.4246-742_4246-739dup
NM_001160161.2:c.4084-36_4084-33dup	NP_001153633.1:n.4084-36_4084-33dup
NM_198056.3:c.4246-36_4246-33dup	NP_932173.1:n.4246-36_4246-33dup