Canonical Allele Identifier: CA2580614204

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 1524388
• ClinVar RCV Id: RCV002300646 ; RCV003773516
• dbSNP Id: rs2125826148
• gnomAD v4: 3-38551115-TGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551121_38551123del , CM000665.2:g.38551121_38551123del	GRCh38
NC_000003.11:g.38592612_38592614del , CM000665.1:g.38592612_38592614del	GRCh37
NC_000003.10:g.38567616_38567618del	NCBI36
NG_008934.1:g.103555_103557del , LRG_289:g.103555_103557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5251_5253del	ENSP00000333674.7:p.Phe1751del
ENST00000333535.9:c.5254_5256del	ENSP00000328968.4:p.Phe1752del
ENST00000413689.6:c.5254_5256del MANE Plus Clinical	ENSP00000410257.1:p.Phe1752del
ENST00000423572.7:c.5251_5253del MANE Select	ENSP00000398266.2:p.Phe1751del
ENST00000333535.8:c.5254_5256del	ENSP00000328968.4:p.Phe1752del
ENST00000413689.5:c.5254_5256del	ENSP00000410257.1:p.Phe1752del
ENST00000414099.6:c.5200_5202del	ENSP00000398962.2:p.Phe1734del
ENST00000423572.6:c.5251_5253del	ENSP00000398266.2:p.Phe1751del
ENST00000425664.5:c.5200_5202del	ENSP00000416634.1:p.Phe1734del
ENST00000449557.6:c.5092_5094del	ENSP00000413996.2:p.Phe1698del
ENST00000450102.6:c.5092_5094del	ENSP00000403355.2:p.Phe1698del
ENST00000451551.6:c.5092_5094del	ENSP00000388797.2:p.Phe1698del
ENST00000455624.6:c.5155_5157del	ENSP00000399524.2:p.Phe1719del
NM_000335.4:c.5251_5253del , LRG_289t2:c.5251_5253del	NP_000326.2:p.Phe1751del
NM_001099404.1:c.5254_5256del , LRG_289t3:c.5254_5256del	NP_001092874.1:p.Phe1752del
NM_001099405.1:c.5200_5202del	NP_001092875.1:p.Phe1734del
NM_001160160.1:c.5155_5157del	NP_001153632.1:p.Phe1719del
NM_001160161.1:c.5092_5094del	NP_001153633.1:p.Phe1698del
NM_198056.2:c.5254_5256del , LRG_289t1:c.5254_5256del	NP_932173.1:p.Phe1752del
XM_006713282.2:c.5254_5256del	XP_006713345.1:p.Phe1752del
XM_011533991.1:c.5251_5253del	XP_011532293.1:p.Phe1751del
XM_011533992.1:c.5125_5127del	XP_011532294.1:p.Phe1709del
NM_001354701.1:c.5197_5199del	NP_001341630.1:p.Phe1733del
XM_011533991.2:c.5251_5253del	XP_011532293.1:p.Phe1751del
XM_017007017.1:c.5092_5094del	XP_016862506.1:p.Phe1698del
NM_000335.5:c.5251_5253del MANE Select	NP_000326.2:p.Phe1751del
NM_001160160.2:c.5155_5157del	NP_001153632.1:p.Phe1719del
NM_001354701.2:c.5197_5199del	NP_001341630.1:p.Phe1733del
NM_001099404.2:c.5254_5256del MANE Plus Clinical	NP_001092874.1:p.Phe1752del
NM_001099405.2:c.5200_5202del	NP_001092875.1:p.Phe1734del
NM_001160161.2:c.5092_5094del	NP_001153633.1:p.Phe1698del
NM_198056.3:c.5254_5256del	NP_932173.1:p.Phe1752del