Canonical Allele Identifier: CA382777503

Gene: SCN4B

Linked Data

• gnomAD v4: 11-118141251-G-C
• MyVariant Identifiers: chr11:g.118011966G>C (hg19) ; chr11:g.118141251G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141251G>C , CM000673.2:g.118141251G>C	GRCh38
NC_000011.9:g.118011966G>C , CM000673.1:g.118011966G>C	GRCh37
NC_000011.8:g.117517176G>C	NCBI36
NG_011710.1:g.16665C>G , LRG_330:g.16665C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.549C>G MANE Select	ENSP00000322460.4:p.Ile183Met
ENST00000324727.8:c.549C>G	ENSP00000322460.4:p.Ile183Met
ENST00000415030.6:n.692C>G
ENST00000423160.2:n.183C>G
ENST00000529878.1:c.147C>G	ENSP00000436343.1:p.Ile49Met
ENST00000531550.1:n.614C>G
ENST00000532138.1:n.805C>G
NM_001142348.1:c.147C>G	NP_001135820.1:p.Ile49Met
NM_001142349.1:c.219C>G	NP_001135821.1:p.Ile73Met
NM_174934.3:c.549C>G , LRG_330t1:c.549C>G	NP_777594.1:p.Ile183Met
NR_024527.1:n.574C>G
NM_001142348.2:c.147C>G	NP_001135820.1:p.Ile49Met
NM_001142349.2:c.219C>G	NP_001135821.1:p.Ile73Met
NR_024527.2:n.538C>G
NM_174934.4:c.549C>G MANE Select	NP_777594.1:p.Ile183Met