Canonical Allele Identifier: CA352175176

Gene: SCN11A

Linked Data

• MyVariant Identifiers: chr3:g.38936434A>T (hg19) ; chr3:g.38894943A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894943A>T , CM000665.2:g.38894943A>T	GRCh38
NC_000003.11:g.38936434A>T , CM000665.1:g.38936434A>T	GRCh37
NC_000003.10:g.38911438A>T	NCBI36
NG_033859.1:g.60619T>A
NG_033859.2:g.162044T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.2425T>A MANE Select	ENSP00000307599.3:p.Leu809Ile
ENST00000668754.1:c.2425T>A	ENSP00000499569.1:p.Leu809Ile
ENST00000675223.1:c.2425T>A	ENSP00000502481.1:p.Leu809Ile
ENST00000675672.1:c.2425T>A	ENSP00000502446.1:p.Leu809Ile
ENST00000675892.1:c.2245T>A	ENSP00000502318.1:p.Leu749Ile
ENST00000676045.1:c.2469T>A	ENSP00000501685.1:n.2469T>A
ENST00000676176.1:c.2044T>A	ENSP00000501891.1:p.Leu682Ile
ENST00000302328.7:c.2425T>A	ENSP00000307599.3:p.Leu809Ile
ENST00000444237.2:c.2425T>A	ENSP00000408028.2:p.Leu809Ile
ENST00000456224.7:c.2425T>A	ENSP00000416757.3:p.Leu809Ile
NM_001287223.1:c.2425T>A	NP_001274152.1:p.Leu809Ile
NM_014139.2:c.2425T>A	NP_054858.2:p.Leu809Ile
XM_011533320.1:c.2425T>A	XP_011531622.1:p.Leu809Ile
XM_011533321.1:c.1762T>A	XP_011531623.1:p.Leu588Ile
XM_011533322.1:c.973T>A	XP_011531624.1:p.Leu325Ile
NM_001349253.1:c.2425T>A	NP_001336182.1:p.Leu809Ile
XM_011533321.2:c.1762T>A	XP_011531623.1:p.Leu588Ile
XM_017005647.1:c.2800T>A	XP_016861136.1:p.Leu934Ile
XM_017005648.1:c.2227T>A	XP_016861137.1:p.Leu743Ile
XM_017005650.1:c.2425T>A	XP_016861139.1:p.Leu809Ile
XM_017005651.1:c.2152T>A	XP_016861140.1:p.Leu718Ile
XM_017005652.1:c.2425T>A	XP_016861141.1:p.Leu809Ile
XM_017005653.1:c.829T>A	XP_016861142.1:p.Leu277Ile
NM_001349253.2:c.2425T>A MANE Select	NP_001336182.1:p.Leu809Ile
NM_014139.3:c.2425T>A	NP_054858.2:p.Leu809Ile