Canonical Allele Identifier: CA382778142

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118014646T>A (hg19) ; chr11:g.118143931T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143931T>A , CM000673.2:g.118143931T>A	GRCh38
NC_000011.9:g.118014646T>A , CM000673.1:g.118014646T>A	GRCh37
NC_000011.8:g.117519856T>A	NCBI36
NG_011710.1:g.13985A>T , LRG_330:g.13985A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.365A>T MANE Select	ENSP00000322460.4:p.Glu122Val
ENST00000324727.8:c.365A>T	ENSP00000322460.4:p.Glu122Val
ENST00000415030.6:n.508A>T
ENST00000529878.1:c.62-2595A>T	ENSP00000436343.1:n.62-2595A>T
ENST00000532138.1:n.719+56A>T
NM_001142348.1:c.62-2595A>T	NP_001135820.1:n.62-2595A>T
NM_001142349.1:c.35A>T	NP_001135821.1:p.Glu12Val
NM_174934.3:c.365A>T , LRG_330t1:c.365A>T	NP_777594.1:p.Glu122Val
NR_024527.1:n.488+56A>T
NM_001142348.2:c.62-2595A>T	NP_001135820.1:n.62-2595A>T
NM_001142349.2:c.35A>T	NP_001135821.1:p.Glu12Val
NR_024527.2:n.452+56A>T
NM_174934.4:c.365A>T MANE Select	NP_777594.1:p.Glu122Val