Canonical Allele Identifier: CA2499216729

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 1051652
• ClinVar RCV Id: RCV001359720
• dbSNP Id: rs2125826517

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551263_38551264delinsAA , CM000665.2:g.38551263_38551264delinsAA	GRCh38
NC_000003.11:g.38592754_38592755delinsAA , CM000665.1:g.38592754_38592755delinsAA	GRCh37
NC_000003.10:g.38567758_38567759delinsAA	NCBI36
NG_008934.1:g.103409_103410delinsTT , LRG_289:g.103409_103410delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5105_5106delinsTT	ENSP00000333674.7:p.Cys1702Phe
ENST00000333535.9:c.5108_5109delinsTT	ENSP00000328968.4:p.Cys1703Phe
ENST00000413689.6:c.5108_5109delinsTT MANE Plus Clinical	ENSP00000410257.1:p.Cys1703Phe
ENST00000423572.7:c.5105_5106delinsTT MANE Select	ENSP00000398266.2:p.Cys1702Phe
ENST00000333535.8:c.5108_5109delinsTT	ENSP00000328968.4:p.Cys1703Phe
ENST00000413689.5:c.5108_5109delinsTT	ENSP00000410257.1:p.Cys1703Phe
ENST00000414099.6:c.5054_5055delinsTT	ENSP00000398962.2:p.Cys1685Phe
ENST00000423572.6:c.5105_5106delinsTT	ENSP00000398266.2:p.Cys1702Phe
ENST00000425664.5:c.5054_5055delinsTT	ENSP00000416634.1:p.Cys1685Phe
ENST00000449557.6:c.4946_4947delinsTT	ENSP00000413996.2:p.Cys1649Phe
ENST00000450102.6:c.4946_4947delinsTT	ENSP00000403355.2:p.Cys1649Phe
ENST00000451551.6:c.4946_4947delinsTT	ENSP00000388797.2:p.Cys1649Phe
ENST00000455624.6:c.5009_5010delinsTT	ENSP00000399524.2:p.Cys1670Phe
NM_000335.4:c.5105_5106delinsTT , LRG_289t2:c.5105_5106delinsTT	NP_000326.2:p.Cys1702Phe
NM_001099404.1:c.5108_5109delinsTT , LRG_289t3:c.5108_5109delinsTT	NP_001092874.1:p.Cys1703Phe
NM_001099405.1:c.5054_5055delinsTT	NP_001092875.1:p.Cys1685Phe
NM_001160160.1:c.5009_5010delinsTT	NP_001153632.1:p.Cys1670Phe
NM_001160161.1:c.4946_4947delinsTT	NP_001153633.1:p.Cys1649Phe
NM_198056.2:c.5108_5109delinsTT , LRG_289t1:c.5108_5109delinsTT	NP_932173.1:p.Cys1703Phe
XM_006713282.2:c.5108_5109delinsTT	XP_006713345.1:p.Cys1703Phe
XM_011533991.1:c.5105_5106delinsTT	XP_011532293.1:p.Cys1702Phe
XM_011533992.1:c.4979_4980delinsTT	XP_011532294.1:p.Cys1660Phe
NM_001354701.1:c.5051_5052delinsTT	NP_001341630.1:p.Cys1684Phe
XM_011533991.2:c.5105_5106delinsTT	XP_011532293.1:p.Cys1702Phe
XM_017007017.1:c.4946_4947delinsTT	XP_016862506.1:p.Cys1649Phe
NM_000335.5:c.5105_5106delinsTT MANE Select	NP_000326.2:p.Cys1702Phe
NM_001160160.2:c.5009_5010delinsTT	NP_001153632.1:p.Cys1670Phe
NM_001354701.2:c.5051_5052delinsTT	NP_001341630.1:p.Cys1684Phe
NM_001099404.2:c.5108_5109delinsTT MANE Plus Clinical	NP_001092874.1:p.Cys1703Phe
NM_001099405.2:c.5054_5055delinsTT	NP_001092875.1:p.Cys1685Phe
NM_001160161.2:c.4946_4947delinsTT	NP_001153633.1:p.Cys1649Phe
NM_198056.3:c.5108_5109delinsTT	NP_932173.1:p.Cys1703Phe