Canonical Allele Identifier: CA405328608

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 852686
• ClinVar RCV Id: RCV001057345 ; RCV002451237 ; RCV002479349
• dbSNP Id: rs1555720710
• MyVariant Identifiers: chr19:g.35524445G>A (hg19) ; chr19:g.35033541G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033541G>A , CM000681.2:g.35033541G>A	GRCh38
NC_000019.9:g.35524445G>A , CM000681.1:g.35524445G>A	GRCh37
NC_000019.8:g.40216285G>A	NCBI36
NG_013359.1:g.7854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.250G>A	ENSP00000396915.2:p.Glu84Lys
ENST00000262631.11:c.250G>A MANE Select	ENSP00000262631.3:p.Glu84Lys
ENST00000415950.4:c.250G>A	ENSP00000396915.2:p.Glu84Lys
ENST00000596348.2:c.151G>A	ENSP00000492247.1:p.Glu51Lys
ENST00000638536.1:c.250G>A	ENSP00000492022.1:p.Glu84Lys
ENST00000640135.1:c.151G>A	ENSP00000492655.1:p.Glu51Lys
ENST00000675741.1:c.151G>A	ENSP00000502395.1:p.Glu51Lys
ENST00000676410.1:c.151G>A	ENSP00000502717.1:p.Glu51Lys
ENST00000262631.9:c.250G>A	ENSP00000262631.3:p.Glu84Lys
ENST00000415950.3:c.250G>A	ENSP00000396915.2:p.Glu84Lys
ENST00000595652.5:c.208-171G>A	ENSP00000468848.1:n.208-171G>A
ENST00000596348.1:n.259G>A
NM_001037.4:c.250G>A	NP_001028.1:p.Glu84Lys
NM_199037.3:c.250G>A	NP_950238.1:p.Glu84Lys
XM_005259144.1:c.151G>A	XP_005259201.1:p.Glu51Lys
NM_001321605.1:c.151G>A	NP_001308534.1:p.Glu51Lys
NM_199037.4:c.250G>A	NP_950238.1:p.Glu84Lys
NM_001037.5:c.250G>A MANE Select	NP_001028.1:p.Glu84Lys
NM_001321605.2:c.151G>A	NP_001308534.1:p.Glu51Lys
NM_199037.5:c.250G>A	NP_950238.1:p.Glu84Lys