Canonical Allele Identifier: CA995438140

Gene: SCN1B

Linked Data

• dbSNP Id: rs2064217978
• gnomAD v3: 19-35032186-C-A
• gnomAD v4: 19-35032186-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35032186C>A , CM000681.2:g.35032186C>A	GRCh38
NC_000019.9:g.35523090C>A , CM000681.1:g.35523090C>A	GRCh37
NC_000019.8:g.40214930C>A	NCBI36
NG_013359.1:g.6499C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.41-342C>A	ENSP00000396915.2:n.41-342C>A
ENST00000262631.11:c.41-342C>A MANE Select	ENSP00000262631.3:n.41-342C>A
ENST00000415950.4:c.41-342C>A	ENSP00000396915.2:n.41-342C>A
ENST00000596348.2:c.-59-342C>A	ENSP00000492247.1:n.-59-342C>A
ENST00000638536.1:c.41-342C>A	ENSP00000492022.1:n.41-342C>A
ENST00000640135.1:c.-59-342C>A	ENSP00000492655.1:n.-59-342C>A
ENST00000262631.9:c.41-342C>A	ENSP00000262631.3:n.41-342C>A
ENST00000415950.3:c.41-342C>A	ENSP00000396915.2:n.41-342C>A
ENST00000595652.5:c.41-342C>A	ENSP00000468848.1:n.41-342C>A
ENST00000596348.1:n.50-342C>A
NM_001037.4:c.41-342C>A	NP_001028.1:n.41-342C>A
NM_199037.3:c.41-342C>A	NP_950238.1:n.41-342C>A
XM_005259144.1:c.-59-342C>A	XP_005259201.1:n.-59-342C>A
NM_001321605.1:c.-59-342C>A	NP_001308534.1:n.-59-342C>A
NM_199037.4:c.41-342C>A	NP_950238.1:n.41-342C>A
NM_001037.5:c.41-342C>A MANE Select	NP_001028.1:n.41-342C>A
NM_001321605.2:c.-59-342C>A	NP_001308534.1:n.-59-342C>A
NM_199037.5:c.41-342C>A	NP_950238.1:n.41-342C>A