Canonical Allele Identifier: CA477077270

Gene: SCN4B

Linked Data

• gnomAD v4: 11-118141272-G-A
• MyVariant Identifiers: chr11:g.118011987G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141272G>A , CM000673.2:g.118141272G>A	GRCh38
NC_000011.9:g.118011987G>A , CM000673.1:g.118011987G>A	GRCh37
NC_000011.8:g.117517197G>A	NCBI36
NG_011710.1:g.16644C>T , LRG_330:g.16644C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.528C>T MANE Select	ENSP00000322460.4:p.Leu176=
ENST00000324727.8:c.528C>T	ENSP00000322460.4:p.Leu176=
ENST00000415030.6:n.671C>T
ENST00000423160.2:n.162C>T
ENST00000529878.1:c.126C>T	ENSP00000436343.1:p.Leu42=
ENST00000531550.1:n.593C>T
ENST00000532138.1:n.784C>T
NM_001142348.1:c.126C>T	NP_001135820.1:p.Leu42=
NM_001142349.1:c.198C>T	NP_001135821.1:p.Leu66=
NM_174934.3:c.528C>T , LRG_330t1:c.528C>T	NP_777594.1:p.Leu176=
NR_024527.1:n.553C>T
NM_001142348.2:c.126C>T	NP_001135820.1:p.Leu42=
NM_001142349.2:c.198C>T	NP_001135821.1:p.Leu66=
NR_024527.2:n.517C>T
NM_174934.4:c.528C>T MANE Select	NP_777594.1:p.Leu176=