Canonical Allele Identifier: CA2573136305

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 1451878
• ClinVar RCV Id: RCV003772934
• dbSNP Id: rs2125835336

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38556504del , CM000665.2:g.38556504del	GRCh38
NC_000003.11:g.38597995del , CM000665.1:g.38597995del	GRCh37
NC_000003.10:g.38572999del	NCBI36
NG_008934.1:g.98171del , LRG_289:g.98171del

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.4373del	ENSP00000333674.7:p.Phe1458SerfsTer4
ENST00000333535.9:c.4376del	ENSP00000328968.4:p.Phe1459SerfsTer4
ENST00000413689.6:c.4376del MANE Plus Clinical	ENSP00000410257.1:p.Phe1459SerfsTer4
ENST00000423572.7:c.4373del MANE Select	ENSP00000398266.2:p.Phe1458SerfsTer4
ENST00000333535.8:c.4376del	ENSP00000328968.4:p.Phe1459SerfsTer4
ENST00000413689.5:c.4376del	ENSP00000410257.1:p.Phe1459SerfsTer4
ENST00000414099.6:c.4322del	ENSP00000398962.2:p.Phe1441SerfsTer4
ENST00000423572.6:c.4373del	ENSP00000398266.2:p.Phe1458SerfsTer4
ENST00000425664.5:c.4322del	ENSP00000416634.1:p.Phe1441SerfsTer4
ENST00000449557.6:c.4214del	ENSP00000413996.2:p.Phe1405SerfsTer4
ENST00000450102.6:c.4214del	ENSP00000403355.2:p.Phe1405SerfsTer4
ENST00000451551.6:c.4214del	ENSP00000388797.2:p.Phe1405SerfsTer4
ENST00000455624.6:c.4373del	ENSP00000399524.2:p.Phe1458SerfsTer4
NM_000335.4:c.4373del , LRG_289t2:c.4373del	NP_000326.2:p.Phe1458SerfsTer4
NM_001099404.1:c.4376del , LRG_289t3:c.4376del	NP_001092874.1:p.Phe1459SerfsTer4
NM_001099405.1:c.4322del	NP_001092875.1:p.Phe1441SerfsTer4
NM_001160160.1:c.4373del	NP_001153632.1:p.Phe1458SerfsTer4
NM_001160161.1:c.4214del	NP_001153633.1:p.Phe1405SerfsTer4
NM_198056.2:c.4376del , LRG_289t1:c.4376del	NP_932173.1:p.Phe1459SerfsTer4
XM_006713282.2:c.4376del	XP_006713345.1:p.Phe1459SerfsTer4
XM_011533991.1:c.4373del	XP_011532293.1:p.Phe1458SerfsTer4
XM_011533992.1:c.4247del	XP_011532294.1:p.Phe1416SerfsTer4
NM_001354701.1:c.4319del	NP_001341630.1:p.Phe1440SerfsTer4
XM_011533991.2:c.4373del	XP_011532293.1:p.Phe1458SerfsTer4
XM_017007017.1:c.4214del	XP_016862506.1:p.Phe1405SerfsTer4
NM_000335.5:c.4373del MANE Select	NP_000326.2:p.Phe1458SerfsTer4
NM_001160160.2:c.4373del	NP_001153632.1:p.Phe1458SerfsTer4
NM_001354701.2:c.4319del	NP_001341630.1:p.Phe1440SerfsTer4
NM_001099404.2:c.4376del MANE Plus Clinical	NP_001092874.1:p.Phe1459SerfsTer4
NM_001099405.2:c.4322del	NP_001092875.1:p.Phe1441SerfsTer4
NM_001160161.2:c.4214del	NP_001153633.1:p.Phe1405SerfsTer4
NM_198056.3:c.4376del	NP_932173.1:p.Phe1459SerfsTer4