Canonical Allele Identifier: CA1047000738

Gene: SCN5A

Linked Data

• dbSNP Id: rs2061469008
• gnomAD v3: 3-38575347-AGCTGTGCTCCACGATGTGGTAGCAGGTCTTGCGCAACCG-A
• gnomAD v4: 3-38575347-AGCTGTGCTCCACGATGTGGTAGCAGGTCTTGCGCAACCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38575348_38575386del , CM000665.2:g.38575348_38575386del	GRCh38
NC_000003.11:g.38616839_38616877del , CM000665.1:g.38616839_38616877del	GRCh37
NC_000003.10:g.38591843_38591881del	NCBI36
NG_008934.1:g.79287_79325del , LRG_289:g.79287_79325del

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.3574_3612del	ENSP00000333674.7:p.Arg1192_Ser1204del
ENST00000333535.9:c.3577_3615del	ENSP00000328968.4:p.Arg1193_Ser1205del
ENST00000413689.6:c.3577_3615del MANE Plus Clinical	ENSP00000410257.1:p.Arg1193_Ser1205del
ENST00000423572.7:c.3574_3612del MANE Select	ENSP00000398266.2:p.Arg1192_Ser1204del
ENST00000333535.8:c.3577_3615del	ENSP00000328968.4:p.Arg1193_Ser1205del
ENST00000413689.5:c.3577_3615del	ENSP00000410257.1:p.Arg1193_Ser1205del
ENST00000414099.6:c.3577_3615del	ENSP00000398962.2:p.Arg1193_Ser1205del
ENST00000423572.6:c.3574_3612del	ENSP00000398266.2:p.Arg1192_Ser1204del
ENST00000425664.5:c.3577_3615del	ENSP00000416634.1:p.Arg1193_Ser1205del
ENST00000449557.6:c.3415_3453del	ENSP00000413996.2:p.Arg1139_Ser1151del
ENST00000450102.6:c.3415_3453del	ENSP00000403355.2:p.Arg1139_Ser1151del
ENST00000451551.6:c.3415_3453del	ENSP00000388797.2:p.Arg1139_Ser1151del
ENST00000455624.6:c.3574_3612del	ENSP00000399524.2:p.Arg1192_Ser1204del
NM_000335.4:c.3574_3612del , LRG_289t2:c.3574_3612del	NP_000326.2:p.Arg1192_Ser1204del
NM_001099404.1:c.3577_3615del , LRG_289t3:c.3577_3615del	NP_001092874.1:p.Arg1193_Ser1205del
NM_001099405.1:c.3577_3615del	NP_001092875.1:p.Arg1193_Ser1205del
NM_001160160.1:c.3574_3612del	NP_001153632.1:p.Arg1192_Ser1204del
NM_001160161.1:c.3415_3453del	NP_001153633.1:p.Arg1139_Ser1151del
NM_198056.2:c.3577_3615del , LRG_289t1:c.3577_3615del	NP_932173.1:p.Arg1193_Ser1205del
XM_006713282.2:c.3577_3615del	XP_006713345.1:p.Arg1193_Ser1205del
XM_011533991.1:c.3574_3612del	XP_011532293.1:p.Arg1192_Ser1204del
XM_011533992.1:c.3448_3486del	XP_011532294.1:p.Arg1150_Ser1162del
NM_001354701.1:c.3574_3612del	NP_001341630.1:p.Arg1192_Ser1204del
XM_011533991.2:c.3574_3612del	XP_011532293.1:p.Arg1192_Ser1204del
XM_017007017.1:c.3415_3453del	XP_016862506.1:p.Arg1139_Ser1151del
NM_000335.5:c.3574_3612del MANE Select	NP_000326.2:p.Arg1192_Ser1204del
NM_001160160.2:c.3574_3612del	NP_001153632.1:p.Arg1192_Ser1204del
NM_001354701.2:c.3574_3612del	NP_001341630.1:p.Arg1192_Ser1204del
NM_001099404.2:c.3577_3615del MANE Plus Clinical	NP_001092874.1:p.Arg1193_Ser1205del
NM_001099405.2:c.3577_3615del	NP_001092875.1:p.Arg1193_Ser1205del
NM_001160161.2:c.3415_3453del	NP_001153633.1:p.Arg1139_Ser1151del
NM_198056.3:c.3577_3615del	NP_932173.1:p.Arg1193_Ser1205del