Canonical Allele Identifier: CA382777654

Gene: SCN4B

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.470A>C MANE Select	ENSP00000322460.4:p.Glu157Ala
ENST00000324727.8:c.470A>C	ENSP00000322460.4:p.Glu157Ala
ENST00000415030.6:n.613A>C
ENST00000423160.2:n.104A>C
ENST00000529878.1:c.68A>C	ENSP00000436343.1:p.Glu23Ala
ENST00000531550.1:n.535A>C
ENST00000532138.1:n.726A>C
NM_001142348.1:c.68A>C	NP_001135820.1:p.Glu23Ala
NM_001142349.1:c.140A>C	NP_001135821.1:p.Glu47Ala
NM_174934.3:c.470A>C , LRG_330t1:c.470A>C	NP_777594.1:p.Glu157Ala
NR_024527.1:n.495A>C
NM_001142348.2:c.68A>C	NP_001135820.1:p.Glu23Ala
NM_001142349.2:c.140A>C	NP_001135821.1:p.Glu47Ala
NR_024527.2:n.459A>C
NM_174934.4:c.470A>C MANE Select	NP_777594.1:p.Glu157Ala