Canonical Allele Identifier: CA9371952

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 470187
• ClinVar RCV Id: RCV001460380
• dbSNP Id: rs774401364
• ExAC: 19:35523469 G / A
• gnomAD v2: 19-35523469-G-A
• gnomAD v4: 19-35032565-G-A
• MyVariant Identifiers: chr19:g.35523469G>A (hg19) ; chr19:g.35032565G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35032565G>A , CM000681.2:g.35032565G>A	GRCh38
NC_000019.9:g.35523469G>A , CM000681.1:g.35523469G>A	GRCh37
NC_000019.8:g.40215309G>A	NCBI36
NG_013359.1:g.6878G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.78G>A	ENSP00000396915.2:p.Ser26=
ENST00000262631.11:c.78G>A MANE Select	ENSP00000262631.3:p.Ser26=
ENST00000415950.4:c.78G>A	ENSP00000396915.2:p.Ser26=
ENST00000596348.2:c.-22G>A	ENSP00000492247.1:n.-22G>A
ENST00000638536.1:c.78G>A	ENSP00000492022.1:p.Ser26=
ENST00000640135.1:c.-22G>A	ENSP00000492655.1:n.-22G>A
ENST00000675741.1:c.-22G>A	ENSP00000502395.1:n.-22G>A
ENST00000676410.1:c.-22G>A	ENSP00000502717.1:n.-22G>A
ENST00000262631.9:c.78G>A	ENSP00000262631.3:p.Ser26=
ENST00000415950.3:c.78G>A	ENSP00000396915.2:p.Ser26=
ENST00000595652.5:c.78G>A	ENSP00000468848.1:p.Ser26=
ENST00000596348.1:n.87G>A
NM_001037.4:c.78G>A	NP_001028.1:p.Ser26=
NM_199037.3:c.78G>A	NP_950238.1:p.Ser26=
XM_005259144.1:c.-22G>A	XP_005259201.1:n.-22G>A
NM_001321605.1:c.-22G>A	NP_001308534.1:n.-22G>A
NM_199037.4:c.78G>A	NP_950238.1:p.Ser26=
NM_001037.5:c.78G>A MANE Select	NP_001028.1:p.Ser26=
NM_001321605.2:c.-22G>A	NP_001308534.1:n.-22G>A
NM_199037.5:c.78G>A	NP_950238.1:p.Ser26=