Canonical Allele Identifier: CA120244

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 9255
• ClinVar RCV Id: RCV000009837 ; RCV003332078 ; RCV003988820
• dbSNP Id: rs121434627
• gnomAD v4: 19-35033550-G-C
• MyVariant Identifiers: chr19:g.35524454G>C (hg19) ; chr19:g.35033550G>C (hg38)
• PubMed: PMID:18464934

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033550G>C , CM000681.2:g.35033550G>C	GRCh38
NC_000019.9:g.35524454G>C , CM000681.1:g.35524454G>C	GRCh37
NC_000019.8:g.40216294G>C	NCBI36
NG_013359.1:g.7863G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.259G>C	ENSP00000396915.2:p.Glu87Gln
ENST00000262631.11:c.259G>C MANE Select	ENSP00000262631.3:p.Glu87Gln
ENST00000415950.4:c.259G>C	ENSP00000396915.2:p.Glu87Gln
ENST00000596348.2:c.160G>C	ENSP00000492247.1:p.Glu54Gln
ENST00000638536.1:c.259G>C	ENSP00000492022.1:p.Glu87Gln
ENST00000640135.1:c.160G>C	ENSP00000492655.1:p.Glu54Gln
ENST00000675741.1:c.160G>C	ENSP00000502395.1:p.Glu54Gln
ENST00000676410.1:c.160G>C	ENSP00000502717.1:p.Glu54Gln
ENST00000262631.9:c.259G>C	ENSP00000262631.3:p.Glu87Gln
ENST00000415950.3:c.259G>C	ENSP00000396915.2:p.Glu87Gln
ENST00000595652.5:c.208-162G>C	ENSP00000468848.1:n.208-162G>C
ENST00000596348.1:n.268G>C
NM_001037.4:c.259G>C	NP_001028.1:p.Glu87Gln
NM_199037.3:c.259G>C	NP_950238.1:p.Glu87Gln
XM_005259144.1:c.160G>C	XP_005259201.1:p.Glu54Gln
NM_001321605.1:c.160G>C	NP_001308534.1:p.Glu54Gln
NM_199037.4:c.259G>C	NP_950238.1:p.Glu87Gln
NM_001037.5:c.259G>C MANE Select	NP_001028.1:p.Glu87Gln
NM_001321605.2:c.160G>C	NP_001308534.1:p.Glu54Gln
NM_199037.5:c.259G>C	NP_950238.1:p.Glu87Gln