Canonical Allele Identifier: CA382777592

Gene: SCN4B

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.499C>G MANE Select	ENSP00000322460.4:p.Leu167Val
ENST00000324727.8:c.499C>G	ENSP00000322460.4:p.Leu167Val
ENST00000415030.6:n.642C>G
ENST00000423160.2:n.133C>G
ENST00000529878.1:c.97C>G	ENSP00000436343.1:p.Leu33Val
ENST00000531550.1:n.564C>G
ENST00000532138.1:n.755C>G
NM_001142348.1:c.97C>G	NP_001135820.1:p.Leu33Val
NM_001142349.1:c.169C>G	NP_001135821.1:p.Leu57Val
NM_174934.3:c.499C>G , LRG_330t1:c.499C>G	NP_777594.1:p.Leu167Val
NR_024527.1:n.524C>G
NM_001142348.2:c.97C>G	NP_001135820.1:p.Leu33Val
NM_001142349.2:c.169C>G	NP_001135821.1:p.Leu57Val
NR_024527.2:n.488C>G
NM_174934.4:c.499C>G MANE Select	NP_777594.1:p.Leu167Val