Canonical Allele Identifier: CA477077239

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 1749200
• ClinVar RCV Id: RCV002347600 ; RCV003603123
• dbSNP Id: rs1948093663
• gnomAD v3: 11-118141230-G-T
• gnomAD v4: 11-118141230-G-T
• MyVariant Identifiers: chr11:g.118011945G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141230G>T , CM000673.2:g.118141230G>T	GRCh38
NC_000011.9:g.118011945G>T , CM000673.1:g.118011945G>T	GRCh37
NC_000011.8:g.117517155G>T	NCBI36
NG_011710.1:g.16686C>A , LRG_330:g.16686C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.570C>A MANE Select	ENSP00000322460.4:p.Ile190=
ENST00000324727.8:c.570C>A	ENSP00000322460.4:p.Ile190=
ENST00000415030.6:n.713C>A
ENST00000423160.2:n.204C>A
ENST00000529878.1:c.168C>A	ENSP00000436343.1:p.Ile56=
ENST00000531550.1:n.635C>A
ENST00000532138.1:n.826C>A
NM_001142348.1:c.168C>A	NP_001135820.1:p.Ile56=
NM_001142349.1:c.240C>A	NP_001135821.1:p.Ile80=
NM_174934.3:c.570C>A , LRG_330t1:c.570C>A	NP_777594.1:p.Ile190=
NR_024527.1:n.595C>A
NM_001142348.2:c.168C>A	NP_001135820.1:p.Ile56=
NM_001142349.2:c.240C>A	NP_001135821.1:p.Ile80=
NR_024527.2:n.559C>A
NM_174934.4:c.570C>A MANE Select	NP_777594.1:p.Ile190=