Canonical Allele Identifier: CA1046987169

Gene: SCN5A

Linked Data

• gnomAD v3: 3-38551543-T-TCG
• gnomAD v4: 3-38551543-T-TCG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551544_38551545insGC , CM000665.2:g.38551544_38551545insGC	GRCh38
NC_000003.11:g.38593035_38593036insGC , CM000665.1:g.38593035_38593036insGC	GRCh37
NC_000003.10:g.38568039_38568040insGC	NCBI36
NG_008934.1:g.103129_103130insCG , LRG_289:g.103129_103130insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4825_4826insCG	ENSP00000333674.7:p.Asp1609AlafsTer22
ENST00000333535.9:c.4828_4829insCG	ENSP00000328968.4:p.Asp1610AlafsTer22
ENST00000413689.6:c.4828_4829insCG MANE Plus Clinical	ENSP00000410257.1:p.Asp1610AlafsTer22
ENST00000423572.7:c.4825_4826insCG MANE Select	ENSP00000398266.2:p.Asp1609AlafsTer22
ENST00000333535.8:c.4828_4829insCG	ENSP00000328968.4:p.Asp1610AlafsTer22
ENST00000413689.5:c.4828_4829insCG	ENSP00000410257.1:p.Asp1610AlafsTer22
ENST00000414099.6:c.4774_4775insCG	ENSP00000398962.2:p.Asp1592AlafsTer22
ENST00000423572.6:c.4825_4826insCG	ENSP00000398266.2:p.Asp1609AlafsTer22
ENST00000425664.5:c.4774_4775insCG	ENSP00000416634.1:p.Asp1592AlafsTer22
ENST00000449557.6:c.4666_4667insCG	ENSP00000413996.2:p.Asp1556AlafsTer22
ENST00000450102.6:c.4666_4667insCG	ENSP00000403355.2:p.Asp1556AlafsTer22
ENST00000451551.6:c.4666_4667insCG	ENSP00000388797.2:p.Asp1556AlafsTer22
ENST00000455624.6:c.4729_4730insCG	ENSP00000399524.2:p.Asp1577AlafsTer22
NM_000335.4:c.4825_4826insCG , LRG_289t2:c.4825_4826insCG	NP_000326.2:p.Asp1609AlafsTer22
NM_001099404.1:c.4828_4829insCG , LRG_289t3:c.4828_4829insCG	NP_001092874.1:p.Asp1610AlafsTer22
NM_001099405.1:c.4774_4775insCG	NP_001092875.1:p.Asp1592AlafsTer22
NM_001160160.1:c.4729_4730insCG	NP_001153632.1:p.Asp1577AlafsTer22
NM_001160161.1:c.4666_4667insCG	NP_001153633.1:p.Asp1556AlafsTer22
NM_198056.2:c.4828_4829insCG , LRG_289t1:c.4828_4829insCG	NP_932173.1:p.Asp1610AlafsTer22
XM_006713282.2:c.4828_4829insCG	XP_006713345.1:p.Asp1610AlafsTer22
XM_011533991.1:c.4825_4826insCG	XP_011532293.1:p.Asp1609AlafsTer22
XM_011533992.1:c.4699_4700insCG	XP_011532294.1:p.Asp1567AlafsTer22
NM_001354701.1:c.4771_4772insCG	NP_001341630.1:p.Asp1591AlafsTer22
XM_011533991.2:c.4825_4826insCG	XP_011532293.1:p.Asp1609AlafsTer22
XM_017007017.1:c.4666_4667insCG	XP_016862506.1:p.Asp1556AlafsTer22
NM_000335.5:c.4825_4826insCG MANE Select	NP_000326.2:p.Asp1609AlafsTer22
NM_001160160.2:c.4729_4730insCG	NP_001153632.1:p.Asp1577AlafsTer22
NM_001354701.2:c.4771_4772insCG	NP_001341630.1:p.Asp1591AlafsTer22
NM_001099404.2:c.4828_4829insCG MANE Plus Clinical	NP_001092874.1:p.Asp1610AlafsTer22
NM_001099405.2:c.4774_4775insCG	NP_001092875.1:p.Asp1592AlafsTer22
NM_001160161.2:c.4666_4667insCG	NP_001153633.1:p.Asp1556AlafsTer22
NM_198056.3:c.4828_4829insCG	NP_932173.1:p.Asp1610AlafsTer22