Canonical Allele Identifier: CA1358718258

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894851G= , CM000665.2:g.38894851G=	GRCh38
NC_000003.11:g.38936342G= , CM000665.1:g.38936342G=	GRCh37
NC_000003.10:g.38911346G=	NCBI36
NG_033859.1:g.60711C=
NG_033859.2:g.162136C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.2517C= MANE Select	ENSP00000307599.3:p.Phe839=
ENST00000668754.1:c.2517C=	ENSP00000499569.1:p.Phe839=
ENST00000675223.1:c.2517C=	ENSP00000502481.1:p.Phe839=
ENST00000675672.1:c.2517C=	ENSP00000502446.1:p.Phe839=
ENST00000675892.1:c.2337C=	ENSP00000502318.1:p.Phe779=
ENST00000676045.1:c.2561C=	ENSP00000501685.1:n.2561C=
ENST00000676176.1:c.2136C=	ENSP00000501891.1:p.Phe712=
ENST00000302328.7:c.2517C=	ENSP00000307599.3:p.Phe839=
ENST00000444237.2:c.2517C=	ENSP00000408028.2:p.Phe839=
ENST00000456224.7:c.2517C=	ENSP00000416757.3:p.Phe839=
NM_001287223.1:c.2517C=	NP_001274152.1:p.Phe839=
NM_014139.2:c.2517C=	NP_054858.2:p.Phe839=
XM_011533320.1:c.2517C=	XP_011531622.1:p.Phe839=
XM_011533321.1:c.1854C=	XP_011531623.1:p.Phe618=
XM_011533322.1:c.1065C=	XP_011531624.1:p.Phe355=
NM_001349253.1:c.2517C=	NP_001336182.1:p.Phe839=
XM_011533321.2:c.1854C=	XP_011531623.1:p.Phe618=
XM_017005647.1:c.2892C=	XP_016861136.1:p.Phe964=
XM_017005648.1:c.2319C=	XP_016861137.1:p.Phe773=
XM_017005650.1:c.2517C=	XP_016861139.1:p.Phe839=
XM_017005651.1:c.2244C=	XP_016861140.1:p.Phe748=
XM_017005652.1:c.2517C=	XP_016861141.1:p.Phe839=
XM_017005653.1:c.921C=	XP_016861142.1:p.Phe307=
NM_001349253.2:c.2517C= MANE Select	NP_001336182.1:p.Phe839=
NM_014139.3:c.2517C=	NP_054858.2:p.Phe839=