Canonical Allele Identifier: CA382777858

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118014567G>C (hg19) ; chr11:g.118143852G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143852G>C , CM000673.2:g.118143852G>C	GRCh38
NC_000011.9:g.118014567G>C , CM000673.1:g.118014567G>C	GRCh37
NC_000011.8:g.117519777G>C	NCBI36
NG_011710.1:g.14064C>G , LRG_330:g.14064C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.444C>G MANE Select	ENSP00000322460.4:p.Phe148Leu
ENST00000324727.8:c.444C>G	ENSP00000322460.4:p.Phe148Leu
ENST00000415030.6:n.587C>G
ENST00000529878.1:c.62-2516C>G	ENSP00000436343.1:n.62-2516C>G
ENST00000532138.1:n.719+135C>G
NM_001142348.1:c.62-2516C>G	NP_001135820.1:n.62-2516C>G
NM_001142349.1:c.114C>G	NP_001135821.1:p.Phe38Leu
NM_174934.3:c.444C>G , LRG_330t1:c.444C>G	NP_777594.1:p.Phe148Leu
NR_024527.1:n.488+135C>G
NM_001142348.2:c.62-2516C>G	NP_001135820.1:n.62-2516C>G
NM_001142349.2:c.114C>G	NP_001135821.1:p.Phe38Leu
NR_024527.2:n.452+135C>G
NM_174934.4:c.444C>G MANE Select	NP_777594.1:p.Phe148Leu