Canonical Allele Identifier: CA477077232

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118011939C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141224C>T , CM000673.2:g.118141224C>T	GRCh38
NC_000011.9:g.118011939C>T , CM000673.1:g.118011939C>T	GRCh37
NC_000011.8:g.117517149C>T	NCBI36
NG_011710.1:g.16692G>A , LRG_330:g.16692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.576G>A MANE Select	ENSP00000322460.4:p.Lys192=
ENST00000324727.8:c.576G>A	ENSP00000322460.4:p.Lys192=
ENST00000415030.6:n.719G>A
ENST00000423160.2:n.210G>A
ENST00000529878.1:c.174G>A	ENSP00000436343.1:p.Lys58=
ENST00000531550.1:n.641G>A
ENST00000532138.1:n.832G>A
NM_001142348.1:c.174G>A	NP_001135820.1:p.Lys58=
NM_001142349.1:c.246G>A	NP_001135821.1:p.Lys82=
NM_174934.3:c.576G>A , LRG_330t1:c.576G>A	NP_777594.1:p.Lys192=
NR_024527.1:n.601G>A
NM_001142348.2:c.174G>A	NP_001135820.1:p.Lys58=
NM_001142349.2:c.246G>A	NP_001135821.1:p.Lys82=
NR_024527.2:n.565G>A
NM_174934.4:c.576G>A MANE Select	NP_777594.1:p.Lys192=