Canonical Allele Identifier: CA2333466967

Gene: SCN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033504G= , CM000681.2:g.35033504G=	GRCh38
NC_000019.9:g.35524408G= , CM000681.1:g.35524408G=	GRCh37
NC_000019.8:g.40216248G=	NCBI36
NG_013359.1:g.7817G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.213G=	ENSP00000396915.2:p.Leu71=
ENST00000262631.11:c.213G= MANE Select	ENSP00000262631.3:p.Leu71=
ENST00000415950.4:c.213G=	ENSP00000396915.2:p.Leu71=
ENST00000596348.2:c.114G=	ENSP00000492247.1:p.Leu38=
ENST00000638536.1:c.213G=	ENSP00000492022.1:p.Leu71=
ENST00000640135.1:c.114G=	ENSP00000492655.1:p.Leu38=
ENST00000675741.1:c.114G=	ENSP00000502395.1:p.Leu38=
ENST00000676410.1:c.114G=	ENSP00000502717.1:p.Leu38=
ENST00000262631.9:c.213G=	ENSP00000262631.3:p.Leu71=
ENST00000415950.3:c.213G=	ENSP00000396915.2:p.Leu71=
ENST00000595652.5:c.208-208G=	ENSP00000468848.1:n.208-208G=
ENST00000596348.1:n.222G=
NM_001037.4:c.213G=	NP_001028.1:p.Leu71=
NM_199037.3:c.213G=	NP_950238.1:p.Leu71=
XM_005259144.1:c.114G=	XP_005259201.1:p.Leu38=
NM_001321605.1:c.114G=	NP_001308534.1:p.Leu38=
NM_199037.4:c.213G=	NP_950238.1:p.Leu71=
NM_001037.5:c.213G= MANE Select	NP_001028.1:p.Leu71=
NM_001321605.2:c.114G=	NP_001308534.1:p.Leu38=
NM_199037.5:c.213G=	NP_950238.1:p.Leu71=