Canonical Allele Identifier: CA382777593

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118012016G>T (hg19) ; chr11:g.118141301G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141301G>T , CM000673.2:g.118141301G>T	GRCh38
NC_000011.9:g.118012016G>T , CM000673.1:g.118012016G>T	GRCh37
NC_000011.8:g.117517226G>T	NCBI36
NG_011710.1:g.16615C>A , LRG_330:g.16615C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.499C>A MANE Select	ENSP00000322460.4:p.Leu167Met
ENST00000324727.8:c.499C>A	ENSP00000322460.4:p.Leu167Met
ENST00000415030.6:n.642C>A
ENST00000423160.2:n.133C>A
ENST00000529878.1:c.97C>A	ENSP00000436343.1:p.Leu33Met
ENST00000531550.1:n.564C>A
ENST00000532138.1:n.755C>A
NM_001142348.1:c.97C>A	NP_001135820.1:p.Leu33Met
NM_001142349.1:c.169C>A	NP_001135821.1:p.Leu57Met
NM_174934.3:c.499C>A , LRG_330t1:c.499C>A	NP_777594.1:p.Leu167Met
NR_024527.1:n.524C>A
NM_001142348.2:c.97C>A	NP_001135820.1:p.Leu33Met
NM_001142349.2:c.169C>A	NP_001135821.1:p.Leu57Met
NR_024527.2:n.488C>A
NM_174934.4:c.499C>A MANE Select	NP_777594.1:p.Leu167Met