Canonical Allele Identifier: CA382777509

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118011968T>C (hg19) ; chr11:g.118141253T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141253T>C , CM000673.2:g.118141253T>C	GRCh38
NC_000011.9:g.118011968T>C , CM000673.1:g.118011968T>C	GRCh37
NC_000011.8:g.117517178T>C	NCBI36
NG_011710.1:g.16663A>G , LRG_330:g.16663A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.547A>G MANE Select	ENSP00000322460.4:p.Ile183Val
ENST00000324727.8:c.547A>G	ENSP00000322460.4:p.Ile183Val
ENST00000415030.6:n.690A>G
ENST00000423160.2:n.181A>G
ENST00000529878.1:c.145A>G	ENSP00000436343.1:p.Ile49Val
ENST00000531550.1:n.612A>G
ENST00000532138.1:n.803A>G
NM_001142348.1:c.145A>G	NP_001135820.1:p.Ile49Val
NM_001142349.1:c.217A>G	NP_001135821.1:p.Ile73Val
NM_174934.3:c.547A>G , LRG_330t1:c.547A>G	NP_777594.1:p.Ile183Val
NR_024527.1:n.572A>G
NM_001142348.2:c.145A>G	NP_001135820.1:p.Ile49Val
NM_001142349.2:c.217A>G	NP_001135821.1:p.Ile73Val
NR_024527.2:n.536A>G
NM_174934.4:c.547A>G MANE Select	NP_777594.1:p.Ile183Val