Canonical Allele Identifier: CA307703784

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 701283
• ClinVar RCV Id: RCV001500024
• dbSNP Id: rs749830952
• gnomAD v4: 19-35033950-C-G
• MyVariant Identifiers: chr19:g.35524854C>G (hg19) ; chr19:g.35033950C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033950C>G , CM000681.2:g.35033950C>G	GRCh38
NC_000019.9:g.35524854C>G , CM000681.1:g.35524854C>G	GRCh37
NC_000019.8:g.40216694C>G	NCBI36
NG_013359.1:g.8263C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.659C>G	ENSP00000396915.2:p.Pro220Arg
ENST00000262631.11:c.448+211C>G MANE Select	ENSP00000262631.3:n.448+211C>G
ENST00000415950.4:c.659C>G	ENSP00000396915.2:p.Pro220Arg
ENST00000596348.2:c.349+211C>G	ENSP00000492247.1:n.349+211C>G
ENST00000638536.1:c.448+211C>G	ENSP00000492022.1:n.448+211C>G
ENST00000640135.1:c.560C>G	ENSP00000492655.1:p.Pro187Arg
ENST00000675741.1:c.349+211C>G	ENSP00000502395.1:n.349+211C>G
ENST00000676410.1:c.349+211C>G	ENSP00000502717.1:n.349+211C>G
ENST00000262631.9:c.448+211C>G	ENSP00000262631.3:n.448+211C>G
ENST00000415950.3:c.659C>G	ENSP00000396915.2:p.Pro220Arg
ENST00000595652.5:c.235+211C>G	ENSP00000468848.1:n.235+211C>G
ENST00000596348.1:n.457+211C>G
NM_001037.4:c.448+211C>G	NP_001028.1:n.448+211C>G
NM_199037.3:c.659C>G	NP_950238.1:p.Pro220Arg
XM_005259144.1:c.349+211C>G	XP_005259201.1:n.349+211C>G
NM_001321605.1:c.349+211C>G	NP_001308534.1:n.349+211C>G
NM_199037.4:c.659C>G	NP_950238.1:p.Pro220Arg
NM_001037.5:c.448+211C>G MANE Select	NP_001028.1:n.448+211C>G
NM_001321605.2:c.349+211C>G	NP_001308534.1:n.349+211C>G
NM_199037.5:c.659C>G	NP_950238.1:p.Pro220Arg