Canonical Allele Identifier: CA2321681

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38867453T>C , CM000665.2:g.38867453T>C	GRCh38
NC_000003.11:g.38908944T>C , CM000665.1:g.38908944T>C	GRCh37
NC_000003.10:g.38883948T>C	NCBI36
NG_033859.1:g.88109A>G
NG_033859.2:g.189534A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001349253.2:c.3819A>G MANE Select	NP_001336182.1:p.Glu1273=
ENST00000302328.9:c.3819A>G MANE Select	ENSP00000307599.3:p.Glu1273=
NM_001287223.1:c.3819A>G	NP_001274152.1:p.Glu1273=
NM_001349253.1:c.3819A>G	NP_001336182.1:p.Glu1273=
NM_014139.2:c.3819A>G	NP_054858.2:p.Glu1273=
NM_014139.3:c.3819A>G	NP_054858.2:p.Glu1273=
ENST00000302328.7:c.3819A>G	ENSP00000307599.3:p.Glu1273=
ENST00000444237.2:c.3819A>G	ENSP00000408028.2:p.Glu1273=
ENST00000456224.7:c.3705A>G	ENSP00000416757.3:p.Glu1235=
ENST00000668754.1:c.3819A>G	ENSP00000499569.1:p.Glu1273=
ENST00000675223.1:c.3819A>G	ENSP00000502481.1:p.Glu1273=
ENST00000675672.1:c.3873A>G	ENSP00000502446.1:n.3873A>G
ENST00000675892.1:c.3639A>G	ENSP00000502318.1:p.Glu1213=
ENST00000676045.1:c.3863A>G	ENSP00000501685.1:n.3863A>G
ENST00000676176.1:c.3438A>G	ENSP00000501891.1:p.Glu1146=
XM_011533320.1:c.3819A>G	XP_011531622.1:p.Glu1273=
XM_011533321.1:c.3156A>G	XP_011531623.1:p.Glu1052=
XM_011533321.2:c.3156A>G	XP_011531623.1:p.Glu1052=
XM_011533322.1:c.2367A>G	XP_011531624.1:p.Glu789=
XM_017005647.1:c.4194A>G	XP_016861136.1:p.Glu1398=
XM_017005648.1:c.3621A>G	XP_016861137.1:p.Glu1207=
XM_017005650.1:c.3819A>G	XP_016861139.1:p.Glu1273=
XM_017005651.1:c.3546A>G	XP_016861140.1:p.Glu1182=
XM_017005652.1:c.3819A>G	XP_016861141.1:p.Glu1273=
XM_017005653.1:c.2223A>G	XP_016861142.1:p.Glu741=