Canonical Allele Identifier: CA433331895

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 1097295
• ClinVar RCV Id: RCV003771332
• dbSNP Id: rs2125825916
• gnomAD v4: 3-38551017-G-C
• MyVariant Identifiers: chr3:g.38592508G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551017G>C , CM000665.2:g.38551017G>C	GRCh38
NC_000003.11:g.38592508G>C , CM000665.1:g.38592508G>C	GRCh37
NC_000003.10:g.38567512G>C	NCBI36
NG_008934.1:g.103656C>G , LRG_289:g.103656C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5352C>G	ENSP00000333674.7:p.Pro1784=
ENST00000333535.9:c.5355C>G	ENSP00000328968.4:p.Pro1785=
ENST00000413689.6:c.5355C>G MANE Plus Clinical	ENSP00000410257.1:p.Pro1785=
ENST00000423572.7:c.5352C>G MANE Select	ENSP00000398266.2:p.Pro1784=
ENST00000333535.8:c.5355C>G	ENSP00000328968.4:p.Pro1785=
ENST00000413689.5:c.5355C>G	ENSP00000410257.1:p.Pro1785=
ENST00000414099.6:c.5301C>G	ENSP00000398962.2:p.Pro1767=
ENST00000423572.6:c.5352C>G	ENSP00000398266.2:p.Pro1784=
ENST00000425664.5:c.5301C>G	ENSP00000416634.1:p.Pro1767=
ENST00000449557.6:c.5193C>G	ENSP00000413996.2:p.Pro1731=
ENST00000450102.6:c.5193C>G	ENSP00000403355.2:p.Pro1731=
ENST00000451551.6:c.5193C>G	ENSP00000388797.2:p.Pro1731=
ENST00000455624.6:c.5256C>G	ENSP00000399524.2:p.Pro1752=
NM_000335.4:c.5352C>G , LRG_289t2:c.5352C>G	NP_000326.2:p.Pro1784=
NM_001099404.1:c.5355C>G , LRG_289t3:c.5355C>G	NP_001092874.1:p.Pro1785=
NM_001099405.1:c.5301C>G	NP_001092875.1:p.Pro1767=
NM_001160160.1:c.5256C>G	NP_001153632.1:p.Pro1752=
NM_001160161.1:c.5193C>G	NP_001153633.1:p.Pro1731=
NM_198056.2:c.5355C>G , LRG_289t1:c.5355C>G	NP_932173.1:p.Pro1785=
XM_006713282.2:c.5355C>G	XP_006713345.1:p.Pro1785=
XM_011533991.1:c.5352C>G	XP_011532293.1:p.Pro1784=
XM_011533992.1:c.5226C>G	XP_011532294.1:p.Pro1742=
NM_001354701.1:c.5298C>G	NP_001341630.1:p.Pro1766=
XM_011533991.2:c.5352C>G	XP_011532293.1:p.Pro1784=
XM_017007017.1:c.5193C>G	XP_016862506.1:p.Pro1731=
NM_000335.5:c.5352C>G MANE Select	NP_000326.2:p.Pro1784=
NM_001160160.2:c.5256C>G	NP_001153632.1:p.Pro1752=
NM_001354701.2:c.5298C>G	NP_001341630.1:p.Pro1766=
NM_001099404.2:c.5355C>G MANE Plus Clinical	NP_001092874.1:p.Pro1785=
NM_001099405.2:c.5301C>G	NP_001092875.1:p.Pro1767=
NM_001160161.2:c.5193C>G	NP_001153633.1:p.Pro1731=
NM_198056.3:c.5355C>G	NP_932173.1:p.Pro1785=