Canonical Allele Identifier: CA155052

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 130210
• ClinVar RCV Id: RCV000118244 ; RCV000248271 ; RCV000395856 ; RCV001689657 ; RCV000470285
• dbSNP Id: rs16969930
• ExAC: 19:35530073 T / C
• gnomAD v2: 19-35530073-T-C
• gnomAD v3: 19-35039169-T-C
• gnomAD v4: 19-35039169-T-C
• MyVariant Identifiers: chr19:g.35530073T>C (hg19) ; chr19:g.35039169T>C (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35039169T>C , CM000681.2:g.35039169T>C	GRCh38
NC_000019.9:g.35530073T>C , CM000681.1:g.35530073T>C	GRCh37
NC_000019.8:g.40221913T>C	NCBI36
NG_013359.1:g.13482T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262631.11:c.501T>C MANE Select	ENSP00000262631.3:p.Ile167=
ENST00000596348.2:c.402T>C	ENSP00000492247.1:p.Ile134=
ENST00000602150.2:n.2271T>C
ENST00000638536.1:c.501T>C	ENSP00000492022.1:p.Ile167=
ENST00000639260.1:n.1314T>C
ENST00000675741.1:c.528T>C	ENSP00000502395.1:p.Ile176=
ENST00000676410.1:c.*219T>C	ENSP00000502717.1:n.*219T>C
ENST00000262631.9:c.501T>C	ENSP00000262631.3:p.Ile167=
ENST00000595652.5:c.288T>C	ENSP00000468848.1:p.Ile96=
ENST00000596348.1:n.510T>C
ENST00000602150.1:n.2271T>C
NM_001037.4:c.501T>C	NP_001028.1:p.Ile167=
XM_005259144.1:c.402T>C	XP_005259201.1:p.Ile134=
NM_001321605.1:c.402T>C	NP_001308534.1:p.Ile134=
NM_001037.5:c.501T>C MANE Select	NP_001028.1:p.Ile167=
NM_001321605.2:c.402T>C	NP_001308534.1:p.Ile134=