Canonical Allele Identifier: CA382777556

Gene: SCN4B

Linked Data

• dbSNP Id: rs377730779
• gnomAD v2: 11-118011995-T-A
• gnomAD v3: 11-118141280-T-A
• gnomAD v4: 11-118141280-T-A
• MyVariant Identifiers: chr11:g.118011995T>A (hg19) ; chr11:g.118141280T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141280T>A , CM000673.2:g.118141280T>A	GRCh38
NC_000011.9:g.118011995T>A , CM000673.1:g.118011995T>A	GRCh37
NC_000011.8:g.117517205T>A	NCBI36
NG_011710.1:g.16636A>T , LRG_330:g.16636A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.520A>T MANE Select	ENSP00000322460.4:p.Ile174Phe
ENST00000324727.8:c.520A>T	ENSP00000322460.4:p.Ile174Phe
ENST00000415030.6:n.663A>T
ENST00000423160.2:n.154A>T
ENST00000529878.1:c.118A>T	ENSP00000436343.1:p.Ile40Phe
ENST00000531550.1:n.585A>T
ENST00000532138.1:n.776A>T
NM_001142348.1:c.118A>T	NP_001135820.1:p.Ile40Phe
NM_001142349.1:c.190A>T	NP_001135821.1:p.Ile64Phe
NM_174934.3:c.520A>T , LRG_330t1:c.520A>T	NP_777594.1:p.Ile174Phe
NR_024527.1:n.545A>T
NM_001142348.2:c.118A>T	NP_001135820.1:p.Ile40Phe
NM_001142349.2:c.190A>T	NP_001135821.1:p.Ile64Phe
NR_024527.2:n.509A>T
NM_174934.4:c.520A>T MANE Select	NP_777594.1:p.Ile174Phe