Canonical Allele Identifier: CA382777645

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118012042A>T (hg19) ; chr11:g.118141327A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141327A>T , CM000673.2:g.118141327A>T	GRCh38
NC_000011.9:g.118012042A>T , CM000673.1:g.118012042A>T	GRCh37
NC_000011.8:g.117517252A>T	NCBI36
NG_011710.1:g.16589T>A , LRG_330:g.16589T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.473T>A MANE Select	ENSP00000322460.4:p.Val158Glu
ENST00000324727.8:c.473T>A	ENSP00000322460.4:p.Val158Glu
ENST00000415030.6:n.616T>A
ENST00000423160.2:n.107T>A
ENST00000529878.1:c.71T>A	ENSP00000436343.1:p.Val24Glu
ENST00000531550.1:n.538T>A
ENST00000532138.1:n.729T>A
NM_001142348.1:c.71T>A	NP_001135820.1:p.Val24Glu
NM_001142349.1:c.143T>A	NP_001135821.1:p.Val48Glu
NM_174934.3:c.473T>A , LRG_330t1:c.473T>A	NP_777594.1:p.Val158Glu
NR_024527.1:n.498T>A
NM_001142348.2:c.71T>A	NP_001135820.1:p.Val24Glu
NM_001142349.2:c.143T>A	NP_001135821.1:p.Val48Glu
NR_024527.2:n.462T>A
NM_174934.4:c.473T>A MANE Select	NP_777594.1:p.Val158Glu