Canonical Allele Identifier: CA2333469644

Gene: SCN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35039125G= , CM000681.2:g.35039125G=	GRCh38
NC_000019.9:g.35530029G= , CM000681.1:g.35530029G=	GRCh37
NC_000019.8:g.40221869G=	NCBI36
NG_013359.1:g.13438G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001037.5:c.457G= MANE Select	NP_001028.1:p.Asp153=
ENST00000262631.11:c.457G= MANE Select	ENSP00000262631.3:p.Asp153=
NM_001037.4:c.457G=	NP_001028.1:p.Asp153=
NM_001321605.1:c.358G=	NP_001308534.1:p.Asp120=
NM_001321605.2:c.358G=	NP_001308534.1:p.Asp120=
ENST00000262631.9:c.457G=	ENSP00000262631.3:p.Asp153=
ENST00000595652.5:c.244G=	ENSP00000468848.1:p.Asp82=
ENST00000596348.1:n.466G=
ENST00000596348.2:c.358G=	ENSP00000492247.1:p.Asp120=
ENST00000602150.1:n.2227G=
ENST00000602150.2:n.2227G=
ENST00000638536.1:c.457G=	ENSP00000492022.1:p.Asp153=
ENST00000639260.1:n.1270G=
ENST00000675741.1:c.484G=	ENSP00000502395.1:p.Asp162=
ENST00000676410.1:c.*175G=	ENSP00000502717.1:n.*175G=
XM_005259144.1:c.358G=	XP_005259201.1:p.Asp120=