Canonical Allele Identifier: CA302133

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 190848
• ClinVar RCV Id: RCV000171027 ; RCV000538651
• dbSNP Id: rs769132369
• ExAC: 19:35524873 C / T
• gnomAD v2: 19-35524873-C-T
• gnomAD v3: 19-35033969-C-T
• gnomAD v4: 19-35033969-C-T
• MyVariant Identifiers: chr19:g.35524873C>T (hg19) ; chr19:g.35033969C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033969C>T , CM000681.2:g.35033969C>T	GRCh38
NC_000019.9:g.35524873C>T , CM000681.1:g.35524873C>T	GRCh37
NC_000019.8:g.40216713C>T	NCBI36
NG_013359.1:g.8282C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.678C>T	ENSP00000396915.2:p.Ser226=
ENST00000262631.11:c.448+230C>T MANE Select	ENSP00000262631.3:n.448+230C>T
ENST00000415950.4:c.678C>T	ENSP00000396915.2:p.Ser226=
ENST00000596348.2:c.349+230C>T	ENSP00000492247.1:n.349+230C>T
ENST00000638536.1:c.448+230C>T	ENSP00000492022.1:n.448+230C>T
ENST00000640135.1:c.579C>T	ENSP00000492655.1:p.Ser193=
ENST00000675741.1:c.349+230C>T	ENSP00000502395.1:n.349+230C>T
ENST00000676410.1:c.349+230C>T	ENSP00000502717.1:n.349+230C>T
ENST00000262631.9:c.448+230C>T	ENSP00000262631.3:n.448+230C>T
ENST00000415950.3:c.678C>T	ENSP00000396915.2:p.Ser226=
ENST00000595652.5:c.235+230C>T	ENSP00000468848.1:n.235+230C>T
ENST00000596348.1:n.457+230C>T
NM_001037.4:c.448+230C>T	NP_001028.1:n.448+230C>T
NM_199037.3:c.678C>T	NP_950238.1:p.Ser226=
XM_005259144.1:c.349+230C>T	XP_005259201.1:n.349+230C>T
NM_001321605.1:c.349+230C>T	NP_001308534.1:n.349+230C>T
NM_199037.4:c.678C>T	NP_950238.1:p.Ser226=
NM_001037.5:c.448+230C>T MANE Select	NP_001028.1:n.448+230C>T
NM_001321605.2:c.349+230C>T	NP_001308534.1:n.349+230C>T
NM_199037.5:c.678C>T	NP_950238.1:p.Ser226=