Canonical Allele Identifier: CA307703773

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 470182
• ClinVar RCV Id: RCV000549616 ; RCV001755857 ; RCV002476176
• dbSNP Id: rs72558027
• gnomAD v3: 19-35033931-C-T
• gnomAD v4: 19-35033931-C-T
• MyVariant Identifiers: chr19:g.35524835C>T (hg19) ; chr19:g.35033931C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033931C>T , CM000681.2:g.35033931C>T	GRCh38
NC_000019.9:g.35524835C>T , CM000681.1:g.35524835C>T	GRCh37
NC_000019.8:g.40216675C>T	NCBI36
NG_013359.1:g.8244C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.640C>T	ENSP00000396915.2:p.Arg214Trp
ENST00000262631.11:c.448+192C>T MANE Select	ENSP00000262631.3:n.448+192C>T
ENST00000415950.4:c.640C>T	ENSP00000396915.2:p.Arg214Trp
ENST00000596348.2:c.349+192C>T	ENSP00000492247.1:n.349+192C>T
ENST00000638536.1:c.448+192C>T	ENSP00000492022.1:n.448+192C>T
ENST00000640135.1:c.541C>T	ENSP00000492655.1:p.Arg181Trp
ENST00000675741.1:c.349+192C>T	ENSP00000502395.1:n.349+192C>T
ENST00000676410.1:c.349+192C>T	ENSP00000502717.1:n.349+192C>T
ENST00000262631.9:c.448+192C>T	ENSP00000262631.3:n.448+192C>T
ENST00000415950.3:c.640C>T	ENSP00000396915.2:p.Arg214Trp
ENST00000595652.5:c.235+192C>T	ENSP00000468848.1:n.235+192C>T
ENST00000596348.1:n.457+192C>T
NM_001037.4:c.448+192C>T	NP_001028.1:n.448+192C>T
NM_199037.3:c.640C>T	NP_950238.1:p.Arg214Trp
XM_005259144.1:c.349+192C>T	XP_005259201.1:n.349+192C>T
NM_001321605.1:c.349+192C>T	NP_001308534.1:n.349+192C>T
NM_199037.4:c.640C>T	NP_950238.1:p.Arg214Trp
NM_001037.5:c.448+192C>T MANE Select	NP_001028.1:n.448+192C>T
NM_001321605.2:c.349+192C>T	NP_001308534.1:n.349+192C>T
NM_199037.5:c.640C>T	NP_950238.1:p.Arg214Trp