Canonical Allele Identifier: CA405329198

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 470179
• ClinVar RCV Id: RCV000549414
• dbSNP Id: rs1555720788
• gnomAD v4: 19-35033800-G-T
• MyVariant Identifiers: chr19:g.35524704G>T (hg19) ; chr19:g.35033800G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033800G>T , CM000681.2:g.35033800G>T	GRCh38
NC_000019.9:g.35524704G>T , CM000681.1:g.35524704G>T	GRCh37
NC_000019.8:g.40216544G>T	NCBI36
NG_013359.1:g.8113G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.509G>T	ENSP00000396915.2:p.Arg170Ile
ENST00000262631.11:c.448+61G>T MANE Select	ENSP00000262631.3:n.448+61G>T
ENST00000415950.4:c.509G>T	ENSP00000396915.2:p.Arg170Ile
ENST00000596348.2:c.349+61G>T	ENSP00000492247.1:n.349+61G>T
ENST00000638536.1:c.448+61G>T	ENSP00000492022.1:n.448+61G>T
ENST00000640135.1:c.410G>T	ENSP00000492655.1:p.Arg137Ile
ENST00000675741.1:c.349+61G>T	ENSP00000502395.1:n.349+61G>T
ENST00000676410.1:c.349+61G>T	ENSP00000502717.1:n.349+61G>T
ENST00000262631.9:c.448+61G>T	ENSP00000262631.3:n.448+61G>T
ENST00000415950.3:c.509G>T	ENSP00000396915.2:p.Arg170Ile
ENST00000595652.5:c.235+61G>T	ENSP00000468848.1:n.235+61G>T
ENST00000596348.1:n.457+61G>T
NM_001037.4:c.448+61G>T	NP_001028.1:n.448+61G>T
NM_199037.3:c.509G>T	NP_950238.1:p.Arg170Ile
XM_005259144.1:c.349+61G>T	XP_005259201.1:n.349+61G>T
NM_001321605.1:c.349+61G>T	NP_001308534.1:n.349+61G>T
NM_199037.4:c.509G>T	NP_950238.1:p.Arg170Ile
NM_001037.5:c.448+61G>T MANE Select	NP_001028.1:n.448+61G>T
NM_001321605.2:c.349+61G>T	NP_001308534.1:n.349+61G>T
NM_199037.5:c.509G>T	NP_950238.1:p.Arg170Ile