Canonical Allele Identifier: CA1304438447

Gene: SCN3A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165097374A= , CM000664.2:g.165097374A=	GRCh38
NC_000002.11:g.165953884A= , CM000664.1:g.165953884A=	GRCh37
NC_000002.10:g.165662130A=	NCBI36
NG_042289.1:g.111715T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706067.1:c.4066T=	ENSP00000516211.1:p.Phe1356=
ENST00000283254.12:c.4117T= MANE Select	ENSP00000283254.7:p.Phe1373=
ENST00000638473.1:c.*1958T=	ENSP00000491552.1:n.*1958T=
ENST00000639244.1:c.4066T=	ENSP00000492251.1:p.Phe1356=
ENST00000640652.1:c.*851T=	ENSP00000492807.1:n.*851T=
ENST00000658209.1:c.2326T=	ENSP00000499598.1:n.2326T=
ENST00000283254.11:c.4117T=	ENSP00000283254.7:p.Phe1373=
ENST00000360093.7:c.4117T=	ENSP00000353206.3:p.Phe1373=
ENST00000409101.7:c.3970T=	ENSP00000386726.3:p.Phe1324=
ENST00000440431.6:c.3970T=	ENSP00000403348.1:p.Phe1324=
ENST00000471697.1:n.241T=
NM_001081676.1:c.3970T=	NP_001075145.1:p.Phe1324=
NM_001081677.1:c.3970T=	NP_001075146.1:p.Phe1324=
NM_006922.3:c.4117T=	NP_008853.3:p.Phe1373=
XM_006712679.1:c.4117T=	XP_006712742.1:p.Phe1373=
XM_011511610.1:c.4117T=	XP_011509912.1:p.Phe1373=
XM_011511611.1:c.4117T=	XP_011509913.1:p.Phe1373=
XM_011511612.1:c.4066T=	XP_011509914.1:p.Phe1356=
XM_011511613.1:c.2227T=	XP_011509915.1:p.Phe743=
XM_011511610.3:c.4117T=	XP_011509912.1:p.Phe1373=
XM_011511613.3:c.2227T=	XP_011509915.1:p.Phe743=
XM_017004660.2:c.4117T=	XP_016860149.1:p.Phe1373=
XM_017004661.2:c.4066T=	XP_016860150.1:p.Phe1356=
XM_017004662.2:c.3979T=	XP_016860151.1:p.Phe1327=
XM_017004663.2:c.2227T=	XP_016860152.1:p.Phe743=
NM_006922.4:c.4117T= MANE Select	NP_008853.3:p.Phe1373=
NM_001081676.2:c.3970T=	NP_001075145.1:p.Phe1324=
NM_001081677.2:c.3970T=	NP_001075146.1:p.Phe1324=