Canonical Allele Identifier: CA382777652

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118012045T>A (hg19) ; chr11:g.118141330T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141330T>A , CM000673.2:g.118141330T>A	GRCh38
NC_000011.9:g.118012045T>A , CM000673.1:g.118012045T>A	GRCh37
NC_000011.8:g.117517255T>A	NCBI36
NG_011710.1:g.16586A>T , LRG_330:g.16586A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.470A>T MANE Select	ENSP00000322460.4:p.Glu157Val
ENST00000324727.8:c.470A>T	ENSP00000322460.4:p.Glu157Val
ENST00000415030.6:n.613A>T
ENST00000423160.2:n.104A>T
ENST00000529878.1:c.68A>T	ENSP00000436343.1:p.Glu23Val
ENST00000531550.1:n.535A>T
ENST00000532138.1:n.726A>T
NM_001142348.1:c.68A>T	NP_001135820.1:p.Glu23Val
NM_001142349.1:c.140A>T	NP_001135821.1:p.Glu47Val
NM_174934.3:c.470A>T , LRG_330t1:c.470A>T	NP_777594.1:p.Glu157Val
NR_024527.1:n.495A>T
NM_001142348.2:c.68A>T	NP_001135820.1:p.Glu23Val
NM_001142349.2:c.140A>T	NP_001135821.1:p.Glu47Val
NR_024527.2:n.459A>T
NM_174934.4:c.470A>T MANE Select	NP_777594.1:p.Glu157Val