Canonical Allele Identifier: CA382777579

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118012009A>C (hg19) ; chr11:g.118141294A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141294A>C , CM000673.2:g.118141294A>C	GRCh38
NC_000011.9:g.118012009A>C , CM000673.1:g.118012009A>C	GRCh37
NC_000011.8:g.117517219A>C	NCBI36
NG_011710.1:g.16622T>G , LRG_330:g.16622T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.506T>G MANE Select	ENSP00000322460.4:p.Val169Gly
ENST00000324727.8:c.506T>G	ENSP00000322460.4:p.Val169Gly
ENST00000415030.6:n.649T>G
ENST00000423160.2:n.140T>G
ENST00000529878.1:c.104T>G	ENSP00000436343.1:p.Val35Gly
ENST00000531550.1:n.571T>G
ENST00000532138.1:n.762T>G
NM_001142348.1:c.104T>G	NP_001135820.1:p.Val35Gly
NM_001142349.1:c.176T>G	NP_001135821.1:p.Val59Gly
NM_174934.3:c.506T>G , LRG_330t1:c.506T>G	NP_777594.1:p.Val169Gly
NR_024527.1:n.531T>G
NM_001142348.2:c.104T>G	NP_001135820.1:p.Val35Gly
NM_001142349.2:c.176T>G	NP_001135821.1:p.Val59Gly
NR_024527.2:n.495T>G
NM_174934.4:c.506T>G MANE Select	NP_777594.1:p.Val169Gly