Canonical Allele Identifier: CA2322165

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38899975A>T , CM000665.2:g.38899975A>T	GRCh38
NC_000003.11:g.38941466A>T , CM000665.1:g.38941466A>T	GRCh37
NC_000003.10:g.38916470A>T	NCBI36
NG_033859.1:g.55587T>A
NG_033859.2:g.157012T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001349253.2:c.1941T>A MANE Select	NP_001336182.1:p.Ile647=
ENST00000302328.9:c.1941T>A MANE Select	ENSP00000307599.3:p.Ile647=
NM_001287223.1:c.1941T>A	NP_001274152.1:p.Ile647=
NM_001349253.1:c.1941T>A	NP_001336182.1:p.Ile647=
NM_014139.2:c.1941T>A	NP_054858.2:p.Ile647=
NM_014139.3:c.1941T>A	NP_054858.2:p.Ile647=
ENST00000302328.7:c.1941T>A	ENSP00000307599.3:p.Ile647=
ENST00000444237.2:c.1941T>A	ENSP00000408028.2:p.Ile647=
ENST00000456224.7:c.1941T>A	ENSP00000416757.3:p.Ile647=
ENST00000668754.1:c.1941T>A	ENSP00000499569.1:p.Ile647=
ENST00000675223.1:c.1941T>A	ENSP00000502481.1:p.Ile647=
ENST00000675672.1:c.1941T>A	ENSP00000502446.1:p.Ile647=
ENST00000675892.1:c.1761T>A	ENSP00000502318.1:p.Ile587=
ENST00000676045.1:c.1985T>A	ENSP00000501685.1:n.1985T>A
ENST00000676176.1:c.1941T>A	ENSP00000501891.1:p.Ile647=
XM_011533320.1:c.1941T>A	XP_011531622.1:p.Ile647=
XM_011533321.1:c.1278T>A	XP_011531623.1:p.Ile426=
XM_011533321.2:c.1278T>A	XP_011531623.1:p.Ile426=
XM_011533322.1:c.489T>A	XP_011531624.1:p.Ile163=
XM_017005647.1:c.2316T>A	XP_016861136.1:p.Ile772=
XM_017005648.1:c.1743T>A	XP_016861137.1:p.Ile581=
XM_017005650.1:c.1941T>A	XP_016861139.1:p.Ile647=
XM_017005651.1:c.1668T>A	XP_016861140.1:p.Ile556=
XM_017005652.1:c.1941T>A	XP_016861141.1:p.Ile647=
XM_017005653.1:c.345T>A	XP_016861142.1:p.Ile115=