Canonical Allele Identifier: CA2582117519

Gene: SCN1B

Linked Data

• dbSNP Id: rs960608517
• gnomAD v3: 19-35032219-G-C
• gnomAD v4: 19-35032219-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35032219G>C , CM000681.2:g.35032219G>C	GRCh38
NC_000019.9:g.35523123G>C , CM000681.1:g.35523123G>C	GRCh37
NC_000019.8:g.40214963G>C	NCBI36
NG_013359.1:g.6532G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415950.5:c.41-309G>C	ENSP00000396915.2:n.41-309G>C
ENST00000262631.11:c.41-309G>C MANE Select	ENSP00000262631.3:n.41-309G>C
ENST00000415950.4:c.41-309G>C	ENSP00000396915.2:n.41-309G>C
ENST00000596348.2:c.-59-309G>C	ENSP00000492247.1:n.-59-309G>C
ENST00000638536.1:c.41-309G>C	ENSP00000492022.1:n.41-309G>C
ENST00000640135.1:c.-59-309G>C	ENSP00000492655.1:n.-59-309G>C
ENST00000262631.9:c.41-309G>C	ENSP00000262631.3:n.41-309G>C
ENST00000415950.3:c.41-309G>C	ENSP00000396915.2:n.41-309G>C
ENST00000595652.5:c.41-309G>C	ENSP00000468848.1:n.41-309G>C
ENST00000596348.1:n.50-309G>C
NM_001037.4:c.41-309G>C	NP_001028.1:n.41-309G>C
NM_199037.3:c.41-309G>C	NP_950238.1:n.41-309G>C
XM_005259144.1:c.-59-309G>C	XP_005259201.1:n.-59-309G>C
NM_001321605.1:c.-59-309G>C	NP_001308534.1:n.-59-309G>C
NM_199037.4:c.41-309G>C	NP_950238.1:n.41-309G>C
NM_001037.5:c.41-309G>C MANE Select	NP_001028.1:n.41-309G>C
NM_001321605.2:c.-59-309G>C	NP_001308534.1:n.-59-309G>C
NM_199037.5:c.41-309G>C	NP_950238.1:n.41-309G>C