Canonical Allele Identifier: CA302169

Gene: SCN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35030842G>C , CM000681.2:g.35030842G>C	GRCh38
NC_000019.9:g.35521746G>C , CM000681.1:g.35521746G>C	GRCh37
NC_000019.8:g.40213586G>C	NCBI36
NG_013359.1:g.5155G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.22G>C	ENSP00000396915.2:p.Val8Leu
ENST00000262631.11:c.22G>C MANE Select	ENSP00000262631.3:p.Val8Leu
ENST00000415950.4:c.22G>C	ENSP00000396915.2:p.Val8Leu
ENST00000638536.1:c.22G>C	ENSP00000492022.1:p.Val8Leu
ENST00000262631.9:c.22G>C	ENSP00000262631.3:p.Val8Leu
ENST00000415950.3:c.22G>C	ENSP00000396915.2:p.Val8Leu
ENST00000595652.5:c.22G>C	ENSP00000468848.1:p.Val8Leu
NM_001037.4:c.22G>C	NP_001028.1:p.Val8Leu
NM_199037.3:c.22G>C	NP_950238.1:p.Val8Leu
NM_199037.4:c.22G>C	NP_950238.1:p.Val8Leu
NM_001037.5:c.22G>C MANE Select	NP_001028.1:p.Val8Leu
NM_199037.5:c.22G>C	NP_950238.1:p.Val8Leu