Canonical Allele Identifier: CA382777657

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118012047T>A (hg19) ; chr11:g.118141332T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141332T>A , CM000673.2:g.118141332T>A	GRCh38
NC_000011.9:g.118012047T>A , CM000673.1:g.118012047T>A	GRCh37
NC_000011.8:g.117517257T>A	NCBI36
NG_011710.1:g.16584A>T , LRG_330:g.16584A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.468A>T MANE Select	ENSP00000322460.4:p.Glu156Asp
ENST00000324727.8:c.468A>T	ENSP00000322460.4:p.Glu156Asp
ENST00000415030.6:n.611A>T
ENST00000423160.2:n.102A>T
ENST00000529878.1:c.66A>T	ENSP00000436343.1:p.Glu22Asp
ENST00000531550.1:n.533A>T
ENST00000532138.1:n.724A>T
NM_001142348.1:c.66A>T	NP_001135820.1:p.Glu22Asp
NM_001142349.1:c.138A>T	NP_001135821.1:p.Glu46Asp
NM_174934.3:c.468A>T , LRG_330t1:c.468A>T	NP_777594.1:p.Glu156Asp
NR_024527.1:n.493A>T
NM_001142348.2:c.66A>T	NP_001135820.1:p.Glu22Asp
NM_001142349.2:c.138A>T	NP_001135821.1:p.Glu46Asp
NR_024527.2:n.457A>T
NM_174934.4:c.468A>T MANE Select	NP_777594.1:p.Glu156Asp