Canonical Allele Identifier: CA405328925

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 864391
• ClinVar RCV Id: RCV001071568 ; RCV003483778
• dbSNP Id: rs1351632820
• gnomAD v2: 19-35524583-G-A
• gnomAD v3: 19-35033679-G-A
• gnomAD v4: 19-35033679-G-A
• COSMIC: COSM4724041 ; COSM4724042
• MyVariant Identifiers: chr19:g.35524583G>A (hg19) ; chr19:g.35033679G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033679G>A , CM000681.2:g.35033679G>A	GRCh38
NC_000019.9:g.35524583G>A , CM000681.1:g.35524583G>A	GRCh37
NC_000019.8:g.40216423G>A	NCBI36
NG_013359.1:g.7992G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415950.5:c.388G>A	ENSP00000396915.2:p.Glu130Lys
ENST00000262631.11:c.388G>A MANE Select	ENSP00000262631.3:p.Glu130Lys
ENST00000415950.4:c.388G>A	ENSP00000396915.2:p.Glu130Lys
ENST00000596348.2:c.289G>A	ENSP00000492247.1:p.Glu97Lys
ENST00000638536.1:c.388G>A	ENSP00000492022.1:p.Glu130Lys
ENST00000640135.1:c.289G>A	ENSP00000492655.1:p.Glu97Lys
ENST00000675741.1:c.289G>A	ENSP00000502395.1:p.Glu97Lys
ENST00000676410.1:c.289G>A	ENSP00000502717.1:p.Glu97Lys
ENST00000262631.9:c.388G>A	ENSP00000262631.3:p.Glu130Lys
ENST00000415950.3:c.388G>A	ENSP00000396915.2:p.Glu130Lys
ENST00000595652.5:c.208-33G>A	ENSP00000468848.1:n.208-33G>A
ENST00000596348.1:n.397G>A
NM_001037.4:c.388G>A	NP_001028.1:p.Glu130Lys
NM_199037.3:c.388G>A	NP_950238.1:p.Glu130Lys
XM_005259144.1:c.289G>A	XP_005259201.1:p.Glu97Lys
NM_001321605.1:c.289G>A	NP_001308534.1:p.Glu97Lys
NM_199037.4:c.388G>A	NP_950238.1:p.Glu130Lys
NM_001037.5:c.388G>A MANE Select	NP_001028.1:p.Glu130Lys
NM_001321605.2:c.289G>A	NP_001308534.1:p.Glu97Lys
NM_199037.5:c.388G>A	NP_950238.1:p.Glu130Lys