Canonical Allele Identifier: CA405329894

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 429499
• ClinVar RCV Id: RCV000493721 ; RCV003766771
• dbSNP Id: rs1131691415
• MyVariant Identifiers: chr19:g.35530021C>T (hg19) ; chr19:g.35039117C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35039117C>T , CM000681.2:g.35039117C>T	GRCh38
NC_000019.9:g.35530021C>T , CM000681.1:g.35530021C>T	GRCh37
NC_000019.8:g.40221861C>T	NCBI36
NG_013359.1:g.13430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262631.11:c.449C>T MANE Select	ENSP00000262631.3:p.Ala150Val
ENST00000596348.2:c.350C>T	ENSP00000492247.1:p.Ala117Val
ENST00000602150.2:n.2219C>T
ENST00000638536.1:c.449C>T	ENSP00000492022.1:p.Ala150Val
ENST00000639260.1:n.1262C>T
ENST00000675741.1:c.476C>T	ENSP00000502395.1:p.Ser159Phe
ENST00000676410.1:c.*167C>T	ENSP00000502717.1:n.*167C>T
ENST00000262631.9:c.449C>T	ENSP00000262631.3:p.Ala150Val
ENST00000595652.5:c.236C>T	ENSP00000468848.1:p.Ala79Val
ENST00000596348.1:n.458C>T
ENST00000602150.1:n.2219C>T
NM_001037.4:c.449C>T	NP_001028.1:p.Ala150Val
XM_005259144.1:c.350C>T	XP_005259201.1:p.Ala117Val
NM_001321605.1:c.350C>T	NP_001308534.1:p.Ala117Val
NM_001037.5:c.449C>T MANE Select	NP_001028.1:p.Ala150Val
NM_001321605.2:c.350C>T	NP_001308534.1:p.Ala117Val