Canonical Allele Identifier: CA1358731566

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38925402G= , CM000665.2:g.38925402G=	GRCh38
NC_000003.11:g.38966893G= , CM000665.1:g.38966893G=	GRCh37
NC_000003.10:g.38941897G=	NCBI36
NG_033859.1:g.30160C=
NG_033859.2:g.131585C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.712+13C= MANE Select	ENSP00000307599.3:n.712+13C=
ENST00000668754.1:c.712+13C=	ENSP00000499569.1:n.712+13C=
ENST00000675223.1:c.712+13C=	ENSP00000502481.1:n.712+13C=
ENST00000675672.1:c.712+13C=	ENSP00000502446.1:n.712+13C=
ENST00000675892.1:c.712+13C=	ENSP00000502318.1:n.712+13C=
ENST00000676045.1:c.756+13C=	ENSP00000501685.1:n.756+13C=
ENST00000676176.1:c.712+13C=	ENSP00000501891.1:n.712+13C=
ENST00000302328.7:c.712+13C=	ENSP00000307599.3:n.712+13C=
ENST00000444237.2:c.712+13C=	ENSP00000408028.2:n.712+13C=
ENST00000456224.7:c.712+13C=	ENSP00000416757.3:n.712+13C=
NM_001287223.1:c.712+13C=	NP_001274152.1:n.712+13C=
NM_014139.2:c.712+13C=	NP_054858.2:n.712+13C=
XM_011533320.1:c.712+13C=	XP_011531622.1:n.712+13C=
XM_011533321.1:c.131+13C=	XP_011531623.1:n.131+13C=
NM_001349253.1:c.712+13C=	NP_001336182.1:n.712+13C=
XM_011533321.2:c.131+13C=	XP_011531623.1:n.131+13C=
XM_017005647.1:c.1087+13C=	XP_016861136.1:n.1087+13C=
XM_017005648.1:c.712+13C=	XP_016861137.1:n.712+13C=
XM_017005650.1:c.712+13C=	XP_016861139.1:n.712+13C=
XM_017005651.1:c.439+13C=	XP_016861140.1:n.439+13C=
XM_017005652.1:c.712+13C=	XP_016861141.1:n.712+13C=
NM_001349253.2:c.712+13C= MANE Select	NP_001336182.1:n.712+13C=
NM_014139.3:c.712+13C=	NP_054858.2:n.712+13C=