Canonical Allele Identifier: CA302213

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 190889
• ClinVar RCV Id: RCV000619472 ; RCV001216410 ; RCV001698986
• dbSNP Id: rs149979176
• ExAC: 11:118023371 G / T
• gnomAD v2: 11-118023371-G-T
• gnomAD v3: 11-118152656-G-T
• gnomAD v4: 11-118152656-G-T
• MyVariant Identifiers: chr11:g.118023371G>T (hg19) ; chr11:g.118152656G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118152656G>T , CM000673.2:g.118152656G>T	GRCh38
NC_000011.9:g.118023371G>T , CM000673.1:g.118023371G>T	GRCh37
NC_000011.8:g.117528581G>T	NCBI36
NG_011710.1:g.5260C>A , LRG_330:g.5260C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.18C>A MANE Select	ENSP00000322460.4:p.Asp6Glu
ENST00000324727.8:c.18C>A	ENSP00000322460.4:p.Asp6Glu
ENST00000529878.1:c.18C>A	ENSP00000436343.1:p.Asp6Glu
NM_001142348.1:c.18C>A	NP_001135820.1:p.Asp6Glu
NM_174934.3:c.18C>A , LRG_330t1:c.18C>A	NP_777594.1:p.Asp6Glu
NM_001142348.2:c.18C>A	NP_001135820.1:p.Asp6Glu
NM_174934.4:c.18C>A MANE Select	NP_777594.1:p.Asp6Glu