Canonical Allele Identifier: CA382777467

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118011950A>G (hg19) ; chr11:g.118141235A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141235A>G , CM000673.2:g.118141235A>G	GRCh38
NC_000011.9:g.118011950A>G , CM000673.1:g.118011950A>G	GRCh37
NC_000011.8:g.117517160A>G	NCBI36
NG_011710.1:g.16681T>C , LRG_330:g.16681T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.565T>C MANE Select	ENSP00000322460.4:p.Phe189Leu
ENST00000324727.8:c.565T>C	ENSP00000322460.4:p.Phe189Leu
ENST00000415030.6:n.708T>C
ENST00000423160.2:n.199T>C
ENST00000529878.1:c.163T>C	ENSP00000436343.1:p.Phe55Leu
ENST00000531550.1:n.630T>C
ENST00000532138.1:n.821T>C
NM_001142348.1:c.163T>C	NP_001135820.1:p.Phe55Leu
NM_001142349.1:c.235T>C	NP_001135821.1:p.Phe79Leu
NM_174934.3:c.565T>C , LRG_330t1:c.565T>C	NP_777594.1:p.Phe189Leu
NR_024527.1:n.590T>C
NM_001142348.2:c.163T>C	NP_001135820.1:p.Phe55Leu
NM_001142349.2:c.235T>C	NP_001135821.1:p.Phe79Leu
NR_024527.2:n.554T>C
NM_174934.4:c.565T>C MANE Select	NP_777594.1:p.Phe189Leu