Canonical Allele Identifier: CA405328899

Gene: SCN1B

Linked Data

• MyVariant Identifiers: chr19:g.35524571C>G (hg19) ; chr19:g.35033667C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033667C>G , CM000681.2:g.35033667C>G	GRCh38
NC_000019.9:g.35524571C>G , CM000681.1:g.35524571C>G	GRCh37
NC_000019.8:g.40216411C>G	NCBI36
NG_013359.1:g.7980C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415950.5:c.376C>G	ENSP00000396915.2:p.Leu126Val
ENST00000262631.11:c.376C>G MANE Select	ENSP00000262631.3:p.Leu126Val
ENST00000415950.4:c.376C>G	ENSP00000396915.2:p.Leu126Val
ENST00000596348.2:c.277C>G	ENSP00000492247.1:p.Leu93Val
ENST00000638536.1:c.376C>G	ENSP00000492022.1:p.Leu126Val
ENST00000640135.1:c.277C>G	ENSP00000492655.1:p.Leu93Val
ENST00000675741.1:c.277C>G	ENSP00000502395.1:p.Leu93Val
ENST00000676410.1:c.277C>G	ENSP00000502717.1:p.Leu93Val
ENST00000262631.9:c.376C>G	ENSP00000262631.3:p.Leu126Val
ENST00000415950.3:c.376C>G	ENSP00000396915.2:p.Leu126Val
ENST00000595652.5:c.208-45C>G	ENSP00000468848.1:n.208-45C>G
ENST00000596348.1:n.385C>G
NM_001037.4:c.376C>G	NP_001028.1:p.Leu126Val
NM_199037.3:c.376C>G	NP_950238.1:p.Leu126Val
XM_005259144.1:c.277C>G	XP_005259201.1:p.Leu93Val
NM_001321605.1:c.277C>G	NP_001308534.1:p.Leu93Val
NM_199037.4:c.376C>G	NP_950238.1:p.Leu126Val
NM_001037.5:c.376C>G MANE Select	NP_001028.1:p.Leu126Val
NM_001321605.2:c.277C>G	NP_001308534.1:p.Leu93Val
NM_199037.5:c.376C>G	NP_950238.1:p.Leu126Val