Canonical Allele Identifier: CA382777646

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118012042A>G (hg19) ; chr11:g.118141327A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141327A>G , CM000673.2:g.118141327A>G	GRCh38
NC_000011.9:g.118012042A>G , CM000673.1:g.118012042A>G	GRCh37
NC_000011.8:g.117517252A>G	NCBI36
NG_011710.1:g.16589T>C , LRG_330:g.16589T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.473T>C MANE Select	ENSP00000322460.4:p.Val158Ala
ENST00000324727.8:c.473T>C	ENSP00000322460.4:p.Val158Ala
ENST00000415030.6:n.616T>C
ENST00000423160.2:n.107T>C
ENST00000529878.1:c.71T>C	ENSP00000436343.1:p.Val24Ala
ENST00000531550.1:n.538T>C
ENST00000532138.1:n.729T>C
NM_001142348.1:c.71T>C	NP_001135820.1:p.Val24Ala
NM_001142349.1:c.143T>C	NP_001135821.1:p.Val48Ala
NM_174934.3:c.473T>C , LRG_330t1:c.473T>C	NP_777594.1:p.Val158Ala
NR_024527.1:n.498T>C
NM_001142348.2:c.71T>C	NP_001135820.1:p.Val24Ala
NM_001142349.2:c.143T>C	NP_001135821.1:p.Val48Ala
NR_024527.2:n.462T>C
NM_174934.4:c.473T>C MANE Select	NP_777594.1:p.Val158Ala