Canonical Allele Identifier: CA6300178

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 1439146
• ClinVar RCV Id: RCV001934439 ; RCV002334941
• dbSNP Id: rs368141412
• ExAC: 11:118012002 G / A
• gnomAD v2: 11-118012002-G-A
• gnomAD v3: 11-118141287-G-A
• gnomAD v4: 11-118141287-G-A
• MyVariant Identifiers: chr11:g.118012002G>A (hg19) ; chr11:g.118012002_118012003delinsAC (hg19) ; chr11:g.118141287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141287G>A , CM000673.2:g.118141287G>A	GRCh38
NC_000011.9:g.118012002G>A , CM000673.1:g.118012002G>A	GRCh37
NC_000011.8:g.117517212G>A	NCBI36
NG_011710.1:g.16629C>T , LRG_330:g.16629C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.513C>T MANE Select	ENSP00000322460.4:p.Gly171=
ENST00000324727.8:c.513C>T	ENSP00000322460.4:p.Gly171=
ENST00000415030.6:n.656C>T
ENST00000423160.2:n.147C>T
ENST00000529878.1:c.111C>T	ENSP00000436343.1:p.Gly37=
ENST00000531550.1:n.578C>T
ENST00000532138.1:n.769C>T
NM_001142348.1:c.111C>T	NP_001135820.1:p.Gly37=
NM_001142349.1:c.183C>T	NP_001135821.1:p.Gly61=
NM_174934.3:c.513C>T , LRG_330t1:c.513C>T	NP_777594.1:p.Gly171=
NR_024527.1:n.538C>T
NM_001142348.2:c.111C>T	NP_001135820.1:p.Gly37=
NM_001142349.2:c.183C>T	NP_001135821.1:p.Gly61=
NR_024527.2:n.502C>T
NM_174934.4:c.513C>T MANE Select	NP_777594.1:p.Gly171=