Canonical Allele Identifier: CA1358718251

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894840A= , CM000665.2:g.38894840A=	GRCh38
NC_000003.11:g.38936331A= , CM000665.1:g.38936331A=	GRCh37
NC_000003.10:g.38911335A=	NCBI36
NG_033859.1:g.60722T=
NG_033859.2:g.162147T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.2528T= MANE Select	ENSP00000307599.3:p.Phe843=
ENST00000668754.1:c.2528T=	ENSP00000499569.1:p.Phe843=
ENST00000675223.1:c.2528T=	ENSP00000502481.1:p.Phe843=
ENST00000675672.1:c.2528T=	ENSP00000502446.1:p.Phe843=
ENST00000675892.1:c.2348T=	ENSP00000502318.1:p.Phe783=
ENST00000676045.1:c.2572T=	ENSP00000501685.1:n.2572T=
ENST00000676176.1:c.2147T=	ENSP00000501891.1:p.Phe716=
ENST00000302328.7:c.2528T=	ENSP00000307599.3:p.Phe843=
ENST00000444237.2:c.2528T=	ENSP00000408028.2:p.Phe843=
ENST00000456224.7:c.2528T=	ENSP00000416757.3:p.Phe843=
NM_001287223.1:c.2528T=	NP_001274152.1:p.Phe843=
NM_014139.2:c.2528T=	NP_054858.2:p.Phe843=
XM_011533320.1:c.2528T=	XP_011531622.1:p.Phe843=
XM_011533321.1:c.1865T=	XP_011531623.1:p.Phe622=
XM_011533322.1:c.1076T=	XP_011531624.1:p.Phe359=
NM_001349253.1:c.2528T=	NP_001336182.1:p.Phe843=
XM_011533321.2:c.1865T=	XP_011531623.1:p.Phe622=
XM_017005647.1:c.2903T=	XP_016861136.1:p.Phe968=
XM_017005648.1:c.2330T=	XP_016861137.1:p.Phe777=
XM_017005650.1:c.2528T=	XP_016861139.1:p.Phe843=
XM_017005651.1:c.2255T=	XP_016861140.1:p.Phe752=
XM_017005652.1:c.2528T=	XP_016861141.1:p.Phe843=
XM_017005653.1:c.932T=	XP_016861142.1:p.Phe311=
NM_001349253.2:c.2528T= MANE Select	NP_001336182.1:p.Phe843=
NM_014139.3:c.2528T=	NP_054858.2:p.Phe843=