Canonical Allele Identifier: CA1046987158

Gene: SCN5A

Linked Data

• gnomAD v3: 3-38551540-A-AAG
• gnomAD v4: 3-38551540-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551540_38551541insAG , CM000665.2:g.38551540_38551541insAG	GRCh38
NC_000003.11:g.38593031_38593032insAG , CM000665.1:g.38593031_38593032insAG	GRCh37
NC_000003.10:g.38568035_38568036insAG	NCBI36
NG_008934.1:g.103132_103133insCT , LRG_289:g.103132_103133insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4828_4829insCT	ENSP00000333674.7:p.Ile1610ThrfsTer21
ENST00000333535.9:c.4831_4832insCT	ENSP00000328968.4:p.Ile1611ThrfsTer21
ENST00000413689.6:c.4831_4832insCT MANE Plus Clinical	ENSP00000410257.1:p.Ile1611ThrfsTer21
ENST00000423572.7:c.4828_4829insCT MANE Select	ENSP00000398266.2:p.Ile1610ThrfsTer21
ENST00000333535.8:c.4831_4832insCT	ENSP00000328968.4:p.Ile1611ThrfsTer21
ENST00000413689.5:c.4831_4832insCT	ENSP00000410257.1:p.Ile1611ThrfsTer21
ENST00000414099.6:c.4777_4778insCT	ENSP00000398962.2:p.Ile1593ThrfsTer21
ENST00000423572.6:c.4828_4829insCT	ENSP00000398266.2:p.Ile1610ThrfsTer21
ENST00000425664.5:c.4777_4778insCT	ENSP00000416634.1:p.Ile1593ThrfsTer21
ENST00000449557.6:c.4669_4670insCT	ENSP00000413996.2:p.Ile1557ThrfsTer21
ENST00000450102.6:c.4669_4670insCT	ENSP00000403355.2:p.Ile1557ThrfsTer21
ENST00000451551.6:c.4669_4670insCT	ENSP00000388797.2:p.Ile1557ThrfsTer21
ENST00000455624.6:c.4732_4733insCT	ENSP00000399524.2:p.Ile1578ThrfsTer21
NM_000335.4:c.4828_4829insCT , LRG_289t2:c.4828_4829insCT	NP_000326.2:p.Ile1610ThrfsTer21
NM_001099404.1:c.4831_4832insCT , LRG_289t3:c.4831_4832insCT	NP_001092874.1:p.Ile1611ThrfsTer21
NM_001099405.1:c.4777_4778insCT	NP_001092875.1:p.Ile1593ThrfsTer21
NM_001160160.1:c.4732_4733insCT	NP_001153632.1:p.Ile1578ThrfsTer21
NM_001160161.1:c.4669_4670insCT	NP_001153633.1:p.Ile1557ThrfsTer21
NM_198056.2:c.4831_4832insCT , LRG_289t1:c.4831_4832insCT	NP_932173.1:p.Ile1611ThrfsTer21
XM_006713282.2:c.4831_4832insCT	XP_006713345.1:p.Ile1611ThrfsTer21
XM_011533991.1:c.4828_4829insCT	XP_011532293.1:p.Ile1610ThrfsTer21
XM_011533992.1:c.4702_4703insCT	XP_011532294.1:p.Ile1568ThrfsTer21
NM_001354701.1:c.4774_4775insCT	NP_001341630.1:p.Ile1592ThrfsTer21
XM_011533991.2:c.4828_4829insCT	XP_011532293.1:p.Ile1610ThrfsTer21
XM_017007017.1:c.4669_4670insCT	XP_016862506.1:p.Ile1557ThrfsTer21
NM_000335.5:c.4828_4829insCT MANE Select	NP_000326.2:p.Ile1610ThrfsTer21
NM_001160160.2:c.4732_4733insCT	NP_001153632.1:p.Ile1578ThrfsTer21
NM_001354701.2:c.4774_4775insCT	NP_001341630.1:p.Ile1592ThrfsTer21
NM_001099404.2:c.4831_4832insCT MANE Plus Clinical	NP_001092874.1:p.Ile1611ThrfsTer21
NM_001099405.2:c.4777_4778insCT	NP_001092875.1:p.Ile1593ThrfsTer21
NM_001160161.2:c.4669_4670insCT	NP_001153633.1:p.Ile1557ThrfsTer21
NM_198056.3:c.4831_4832insCT	NP_932173.1:p.Ile1611ThrfsTer21