Canonical Allele Identifier: CA1046986948

Gene: SCN5A

Linked Data

• gnomAD v3: 3-38551524-G-GGA
• gnomAD v4: 3-38551524-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551524_38551525insGA , CM000665.2:g.38551524_38551525insGA	GRCh38
NC_000003.11:g.38593015_38593016insGA , CM000665.1:g.38593015_38593016insGA	GRCh37
NC_000003.10:g.38568019_38568020insGA	NCBI36
NG_008934.1:g.103148_103149insTC , LRG_289:g.103148_103149insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4844_4845insTC	ENSP00000333674.7:p.Phe1616ProfsTer15
ENST00000333535.9:c.4847_4848insTC	ENSP00000328968.4:p.Phe1617ProfsTer15
ENST00000413689.6:c.4847_4848insTC MANE Plus Clinical	ENSP00000410257.1:p.Phe1617ProfsTer15
ENST00000423572.7:c.4844_4845insTC MANE Select	ENSP00000398266.2:p.Phe1616ProfsTer15
ENST00000333535.8:c.4847_4848insTC	ENSP00000328968.4:p.Phe1617ProfsTer15
ENST00000413689.5:c.4847_4848insTC	ENSP00000410257.1:p.Phe1617ProfsTer15
ENST00000414099.6:c.4793_4794insTC	ENSP00000398962.2:p.Phe1599ProfsTer15
ENST00000423572.6:c.4844_4845insTC	ENSP00000398266.2:p.Phe1616ProfsTer15
ENST00000425664.5:c.4793_4794insTC	ENSP00000416634.1:p.Phe1599ProfsTer15
ENST00000449557.6:c.4685_4686insTC	ENSP00000413996.2:p.Phe1563ProfsTer15
ENST00000450102.6:c.4685_4686insTC	ENSP00000403355.2:p.Phe1563ProfsTer15
ENST00000451551.6:c.4685_4686insTC	ENSP00000388797.2:p.Phe1563ProfsTer15
ENST00000455624.6:c.4748_4749insTC	ENSP00000399524.2:p.Phe1584ProfsTer15
NM_000335.4:c.4844_4845insTC , LRG_289t2:c.4844_4845insTC	NP_000326.2:p.Phe1616ProfsTer15
NM_001099404.1:c.4847_4848insTC , LRG_289t3:c.4847_4848insTC	NP_001092874.1:p.Phe1617ProfsTer15
NM_001099405.1:c.4793_4794insTC	NP_001092875.1:p.Phe1599ProfsTer15
NM_001160160.1:c.4748_4749insTC	NP_001153632.1:p.Phe1584ProfsTer15
NM_001160161.1:c.4685_4686insTC	NP_001153633.1:p.Phe1563ProfsTer15
NM_198056.2:c.4847_4848insTC , LRG_289t1:c.4847_4848insTC	NP_932173.1:p.Phe1617ProfsTer15
XM_006713282.2:c.4847_4848insTC	XP_006713345.1:p.Phe1617ProfsTer15
XM_011533991.1:c.4844_4845insTC	XP_011532293.1:p.Phe1616ProfsTer15
XM_011533992.1:c.4718_4719insTC	XP_011532294.1:p.Phe1574ProfsTer15
NM_001354701.1:c.4790_4791insTC	NP_001341630.1:p.Phe1598ProfsTer15
XM_011533991.2:c.4844_4845insTC	XP_011532293.1:p.Phe1616ProfsTer15
XM_017007017.1:c.4685_4686insTC	XP_016862506.1:p.Phe1563ProfsTer15
NM_000335.5:c.4844_4845insTC MANE Select	NP_000326.2:p.Phe1616ProfsTer15
NM_001160160.2:c.4748_4749insTC	NP_001153632.1:p.Phe1584ProfsTer15
NM_001354701.2:c.4790_4791insTC	NP_001341630.1:p.Phe1598ProfsTer15
NM_001099404.2:c.4847_4848insTC MANE Plus Clinical	NP_001092874.1:p.Phe1617ProfsTer15
NM_001099405.2:c.4793_4794insTC	NP_001092875.1:p.Phe1599ProfsTer15
NM_001160161.2:c.4685_4686insTC	NP_001153633.1:p.Phe1563ProfsTer15
NM_198056.3:c.4847_4848insTC	NP_932173.1:p.Phe1617ProfsTer15