Canonical Allele Identifier: CA214234
Gene: SCN1B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36757
dbSNP Id: rs193922728

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35034042G>A , CM000681.2:g.35034042G>A GRCh38
NC_000019.9:g.35524946G>A , CM000681.1:g.35524946G>A GRCh37
NC_000019.8:g.40216786G>A NCBI36
NG_013359.1:g.8355G>A

Transcript Alleles

HGVS Amino-acid change
NM_001037.4:c.448+303G>A VV NP_001028.1:p.=
NM_199037.3:c.751G>A VV NP_950238.1:p.Val251Ile
XM_005259144.1:c.349+303G>A XP_005259201.1:p.=
NM_001321605.1:c.349+303G>A VV NP_001308534.1:p.=
NM_199037.4:c.751G>A VV
NM_001037.5:c.448+303G>A VV MANE Preferred
ENST00000262631.9:c.448+303G>A ENSP00000262631.3:p.=
ENST00000415950.3:n.751G>A ENSP00000396915.2:p.Val251Ile
ENST00000595652.5:c.235+303G>A ENSP00000468848.1:p.=
ENST00000596348.1:n.457+303G>A