Canonical Allele Identifier: CA1358731592

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38925466G= , CM000665.2:g.38925466G=	GRCh38
NC_000003.11:g.38966957G= , CM000665.1:g.38966957G=	GRCh37
NC_000003.10:g.38941961G=	NCBI36
NG_033859.1:g.30096C=
NG_033859.2:g.131521C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.661C= MANE Select	ENSP00000307599.3:p.Leu221=
ENST00000668754.1:c.661C=	ENSP00000499569.1:p.Leu221=
ENST00000675223.1:c.661C=	ENSP00000502481.1:p.Leu221=
ENST00000675672.1:c.661C=	ENSP00000502446.1:p.Leu221=
ENST00000675892.1:c.661C=	ENSP00000502318.1:p.Leu221=
ENST00000676045.1:c.705C=	ENSP00000501685.1:n.705C=
ENST00000676176.1:c.661C=	ENSP00000501891.1:p.Leu221=
ENST00000302328.7:c.661C=	ENSP00000307599.3:p.Leu221=
ENST00000444237.2:c.661C=	ENSP00000408028.2:p.Leu221=
ENST00000456224.7:c.661C=	ENSP00000416757.3:p.Leu221=
NM_001287223.1:c.661C=	NP_001274152.1:p.Leu221=
NM_014139.2:c.661C=	NP_054858.2:p.Leu221=
XM_011533320.1:c.661C=	XP_011531622.1:p.Leu221=
XM_011533321.1:c.80C=	XP_011531623.1:p.Pro27=
NM_001349253.1:c.661C=	NP_001336182.1:p.Leu221=
XM_011533321.2:c.80C=	XP_011531623.1:p.Pro27=
XM_017005647.1:c.1036C=	XP_016861136.1:p.Leu346=
XM_017005648.1:c.661C=	XP_016861137.1:p.Leu221=
XM_017005650.1:c.661C=	XP_016861139.1:p.Leu221=
XM_017005651.1:c.388C=	XP_016861140.1:p.Leu130=
XM_017005652.1:c.661C=	XP_016861141.1:p.Leu221=
NM_001349253.2:c.661C= MANE Select	NP_001336182.1:p.Leu221=
NM_014139.3:c.661C=	NP_054858.2:p.Leu221=