Canonical Allele Identifier: CA382777655

Gene: SCN4B

Linked Data

• dbSNP Id: rs746647997
• MyVariant Identifiers: chr11:g.118012046C>A (hg19) ; chr11:g.118141331C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141331C>A , CM000673.2:g.118141331C>A	GRCh38
NC_000011.9:g.118012046C>A , CM000673.1:g.118012046C>A	GRCh37
NC_000011.8:g.117517256C>A	NCBI36
NG_011710.1:g.16585G>T , LRG_330:g.16585G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.469G>T MANE Select	ENSP00000322460.4:p.Glu157Ter
ENST00000324727.8:c.469G>T	ENSP00000322460.4:p.Glu157Ter
ENST00000415030.6:n.612G>T
ENST00000423160.2:n.103G>T
ENST00000529878.1:c.67G>T	ENSP00000436343.1:p.Glu23Ter
ENST00000531550.1:n.534G>T
ENST00000532138.1:n.725G>T
NM_001142348.1:c.67G>T	NP_001135820.1:p.Glu23Ter
NM_001142349.1:c.139G>T	NP_001135821.1:p.Glu47Ter
NM_174934.3:c.469G>T , LRG_330t1:c.469G>T	NP_777594.1:p.Glu157Ter
NR_024527.1:n.494G>T
NM_001142348.2:c.67G>T	NP_001135820.1:p.Glu23Ter
NM_001142349.2:c.139G>T	NP_001135821.1:p.Glu47Ter
NR_024527.2:n.458G>T
NM_174934.4:c.469G>T MANE Select	NP_777594.1:p.Glu157Ter