Canonical Allele Identifier: CA302173

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 190869
• ClinVar RCV Id: RCV000171049 ; RCV000299875 ; RCV000254455 ; RCV000588361 ; RCV001080647 ; RCV004539576
• dbSNP Id: rs72552027
• ExAC: 19:35521752 G / A
• gnomAD v2: 19-35521752-G-A
• gnomAD v3: 19-35030848-G-A
• gnomAD v4: 19-35030848-G-A
• MyVariant Identifiers: chr19:g.35521752G>A (hg19) ; chr19:g.35030848G>A (hg38)
• PubMed: PMID:20226894

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35030848G>A , CM000681.2:g.35030848G>A	GRCh38
NC_000019.9:g.35521752G>A , CM000681.1:g.35521752G>A	GRCh37
NC_000019.8:g.40213592G>A	NCBI36
NG_013359.1:g.5161G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.28G>A	ENSP00000396915.2:p.Gly10Ser
ENST00000262631.11:c.28G>A MANE Select	ENSP00000262631.3:p.Gly10Ser
ENST00000415950.4:c.28G>A	ENSP00000396915.2:p.Gly10Ser
ENST00000638536.1:c.28G>A	ENSP00000492022.1:p.Gly10Ser
ENST00000262631.9:c.28G>A	ENSP00000262631.3:p.Gly10Ser
ENST00000415950.3:c.28G>A	ENSP00000396915.2:p.Gly10Ser
ENST00000595652.5:c.28G>A	ENSP00000468848.1:p.Gly10Ser
NM_001037.4:c.28G>A	NP_001028.1:p.Gly10Ser
NM_199037.3:c.28G>A	NP_950238.1:p.Gly10Ser
NM_199037.4:c.28G>A	NP_950238.1:p.Gly10Ser
NM_001037.5:c.28G>A MANE Select	NP_001028.1:p.Gly10Ser
NM_199037.5:c.28G>A	NP_950238.1:p.Gly10Ser