Canonical Allele Identifier: CA352142733

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 2005605
• ClinVar RCV Id: RCV003658202
• dbSNP Id: rs1559722032
• MyVariant Identifiers: chr3:g.38592845A>T (hg19) ; chr3:g.38551354A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551354A>T , CM000665.2:g.38551354A>T	GRCh38
NC_000003.11:g.38592845A>T , CM000665.1:g.38592845A>T	GRCh37
NC_000003.10:g.38567849A>T	NCBI36
NG_008934.1:g.103319T>A , LRG_289:g.103319T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.5015T>A	ENSP00000333674.7:p.Ile1672Asn
ENST00000333535.9:c.5018T>A	ENSP00000328968.4:p.Ile1673Asn
ENST00000413689.6:c.5018T>A MANE Plus Clinical	ENSP00000410257.1:p.Ile1673Asn
ENST00000423572.7:c.5015T>A MANE Select	ENSP00000398266.2:p.Ile1672Asn
ENST00000333535.8:c.5018T>A	ENSP00000328968.4:p.Ile1673Asn
ENST00000413689.5:c.5018T>A	ENSP00000410257.1:p.Ile1673Asn
ENST00000414099.6:c.4964T>A	ENSP00000398962.2:p.Ile1655Asn
ENST00000423572.6:c.5015T>A	ENSP00000398266.2:p.Ile1672Asn
ENST00000425664.5:c.4964T>A	ENSP00000416634.1:p.Ile1655Asn
ENST00000449557.6:c.4856T>A	ENSP00000413996.2:p.Ile1619Asn
ENST00000450102.6:c.4856T>A	ENSP00000403355.2:p.Ile1619Asn
ENST00000451551.6:c.4856T>A	ENSP00000388797.2:p.Ile1619Asn
ENST00000455624.6:c.4919T>A	ENSP00000399524.2:p.Ile1640Asn
NM_000335.4:c.5015T>A , LRG_289t2:c.5015T>A	NP_000326.2:p.Ile1672Asn
NM_001099404.1:c.5018T>A , LRG_289t3:c.5018T>A	NP_001092874.1:p.Ile1673Asn
NM_001099405.1:c.4964T>A	NP_001092875.1:p.Ile1655Asn
NM_001160160.1:c.4919T>A	NP_001153632.1:p.Ile1640Asn
NM_001160161.1:c.4856T>A	NP_001153633.1:p.Ile1619Asn
NM_198056.2:c.5018T>A , LRG_289t1:c.5018T>A	NP_932173.1:p.Ile1673Asn
XM_006713282.2:c.5018T>A	XP_006713345.1:p.Ile1673Asn
XM_011533991.1:c.5015T>A	XP_011532293.1:p.Ile1672Asn
XM_011533992.1:c.4889T>A	XP_011532294.1:p.Ile1630Asn
NM_001354701.1:c.4961T>A	NP_001341630.1:p.Ile1654Asn
XM_011533991.2:c.5015T>A	XP_011532293.1:p.Ile1672Asn
XM_017007017.1:c.4856T>A	XP_016862506.1:p.Ile1619Asn
NM_000335.5:c.5015T>A MANE Select	NP_000326.2:p.Ile1672Asn
NM_001160160.2:c.4919T>A	NP_001153632.1:p.Ile1640Asn
NM_001354701.2:c.4961T>A	NP_001341630.1:p.Ile1654Asn
NM_001099404.2:c.5018T>A MANE Plus Clinical	NP_001092874.1:p.Ile1673Asn
NM_001099405.2:c.4964T>A	NP_001092875.1:p.Ile1655Asn
NM_001160161.2:c.4856T>A	NP_001153633.1:p.Ile1619Asn
NM_198056.3:c.5018T>A	NP_932173.1:p.Ile1673Asn