Canonical Allele Identifier: CA405329307

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 2999047
• ClinVar RCV Id: RCV003851678
• gnomAD v4: 19-35033850-C-A
• MyVariant Identifiers: chr19:g.35524754C>A (hg19) ; chr19:g.35033850C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033850C>A , CM000681.2:g.35033850C>A	GRCh38
NC_000019.9:g.35524754C>A , CM000681.1:g.35524754C>A	GRCh37
NC_000019.8:g.40216594C>A	NCBI36
NG_013359.1:g.8163C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.559C>A	ENSP00000396915.2:p.Arg187Ser
ENST00000262631.11:c.448+111C>A MANE Select	ENSP00000262631.3:n.448+111C>A
ENST00000415950.4:c.559C>A	ENSP00000396915.2:p.Arg187Ser
ENST00000596348.2:c.349+111C>A	ENSP00000492247.1:n.349+111C>A
ENST00000638536.1:c.448+111C>A	ENSP00000492022.1:n.448+111C>A
ENST00000640135.1:c.460C>A	ENSP00000492655.1:p.Arg154Ser
ENST00000675741.1:c.349+111C>A	ENSP00000502395.1:n.349+111C>A
ENST00000676410.1:c.349+111C>A	ENSP00000502717.1:n.349+111C>A
ENST00000262631.9:c.448+111C>A	ENSP00000262631.3:n.448+111C>A
ENST00000415950.3:c.559C>A	ENSP00000396915.2:p.Arg187Ser
ENST00000595652.5:c.235+111C>A	ENSP00000468848.1:n.235+111C>A
ENST00000596348.1:n.457+111C>A
NM_001037.4:c.448+111C>A	NP_001028.1:n.448+111C>A
NM_199037.3:c.559C>A	NP_950238.1:p.Arg187Ser
XM_005259144.1:c.349+111C>A	XP_005259201.1:n.349+111C>A
NM_001321605.1:c.349+111C>A	NP_001308534.1:n.349+111C>A
NM_199037.4:c.559C>A	NP_950238.1:p.Arg187Ser
NM_001037.5:c.448+111C>A MANE Select	NP_001028.1:n.448+111C>A
NM_001321605.2:c.349+111C>A	NP_001308534.1:n.349+111C>A
NM_199037.5:c.559C>A	NP_950238.1:p.Arg187Ser