Canonical Allele Identifier: CA2333466965

Gene: SCN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033500T= , CM000681.2:g.35033500T=	GRCh38
NC_000019.9:g.35524404T= , CM000681.1:g.35524404T=	GRCh37
NC_000019.8:g.40216244T=	NCBI36
NG_013359.1:g.7813T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.209T=	ENSP00000396915.2:p.Ile70=
ENST00000262631.11:c.209T= MANE Select	ENSP00000262631.3:p.Ile70=
ENST00000415950.4:c.209T=	ENSP00000396915.2:p.Ile70=
ENST00000596348.2:c.110T=	ENSP00000492247.1:p.Ile37=
ENST00000638536.1:c.209T=	ENSP00000492022.1:p.Ile70=
ENST00000640135.1:c.110T=	ENSP00000492655.1:p.Ile37=
ENST00000675741.1:c.110T=	ENSP00000502395.1:p.Ile37=
ENST00000676410.1:c.110T=	ENSP00000502717.1:p.Ile37=
ENST00000262631.9:c.209T=	ENSP00000262631.3:p.Ile70=
ENST00000415950.3:c.209T=	ENSP00000396915.2:p.Ile70=
ENST00000595652.5:c.208-212T=	ENSP00000468848.1:n.208-212T=
ENST00000596348.1:n.218T=
NM_001037.4:c.209T=	NP_001028.1:p.Ile70=
NM_199037.3:c.209T=	NP_950238.1:p.Ile70=
XM_005259144.1:c.110T=	XP_005259201.1:p.Ile37=
NM_001321605.1:c.110T=	NP_001308534.1:p.Ile37=
NM_199037.4:c.209T=	NP_950238.1:p.Ile70=
NM_001037.5:c.209T= MANE Select	NP_001028.1:p.Ile70=
NM_001321605.2:c.110T=	NP_001308534.1:p.Ile37=
NM_199037.5:c.209T=	NP_950238.1:p.Ile70=