Canonical Allele Identifier: CA2573146838

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 1677723
• ClinVar RCV Id: RCV002224465
• dbSNP Id: rs2135501698
• gnomAD v4: 11-118141331-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141333del , CM000673.2:g.118141333del	GRCh38
NC_000011.9:g.118012048del , CM000673.1:g.118012048del	GRCh37
NC_000011.8:g.117517258del	NCBI36
NG_011710.1:g.16584del , LRG_330:g.16584del

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.468del MANE Select	ENSP00000322460.4:p.Glu157LysfsTer6
ENST00000324727.8:c.468del	ENSP00000322460.4:p.Glu157LysfsTer6
ENST00000415030.6:n.611del
ENST00000423160.2:n.102del
ENST00000529878.1:c.66del	ENSP00000436343.1:p.Glu23LysfsTer6
ENST00000531550.1:n.533del
ENST00000532138.1:n.724del
NM_001142348.1:c.66del	NP_001135820.1:p.Glu23LysfsTer6
NM_001142349.1:c.138del	NP_001135821.1:p.Glu47LysfsTer6
NM_174934.3:c.468del , LRG_330t1:c.468del	NP_777594.1:p.Glu157LysfsTer6
NR_024527.1:n.493del
NM_001142348.2:c.66del	NP_001135820.1:p.Glu23LysfsTer6
NM_001142349.2:c.138del	NP_001135821.1:p.Glu47LysfsTer6
NR_024527.2:n.457del
NM_174934.4:c.468del MANE Select	NP_777594.1:p.Glu157LysfsTer6