Canonical Allele Identifier: CA235710

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 190890
• ClinVar RCV Id: RCV000171073 ; RCV000185523 ; RCV000619368 ; RCV001079013 ; RCV003937533
• dbSNP Id: rs149868494
• ExAC: 11:118023367 C / T
• gnomAD v2: 11-118023367-C-T
• gnomAD v3: 11-118152652-C-T
• gnomAD v4: 11-118152652-C-T
• MyVariant Identifiers: chr11:g.118023367C>T (hg19) ; chr11:g.118152652C>T (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118152652C>T , CM000673.2:g.118152652C>T	GRCh38
NC_000011.9:g.118023367C>T , CM000673.1:g.118023367C>T	GRCh37
NC_000011.8:g.117528577C>T	NCBI36
NG_011710.1:g.5264G>A , LRG_330:g.5264G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.22G>A MANE Select	ENSP00000322460.4:p.Gly8Ser
ENST00000324727.8:c.22G>A	ENSP00000322460.4:p.Gly8Ser
ENST00000529878.1:c.22G>A	ENSP00000436343.1:p.Gly8Ser
NM_001142348.1:c.22G>A	NP_001135820.1:p.Gly8Ser
NM_174934.3:c.22G>A , LRG_330t1:c.22G>A	NP_777594.1:p.Gly8Ser
NM_001142348.2:c.22G>A	NP_001135820.1:p.Gly8Ser
NM_174934.4:c.22G>A MANE Select	NP_777594.1:p.Gly8Ser