Canonical Allele Identifier: CA2580083570

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 2024901
• ClinVar RCV Id: RCV002848041
• gnomAD v4: 11-118141350-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141350G>A , CM000673.2:g.118141350G>A	GRCh38
NC_000011.9:g.118012065G>A , CM000673.1:g.118012065G>A	GRCh37
NC_000011.8:g.117517275G>A	NCBI36
NG_011710.1:g.16566C>T , LRG_330:g.16566C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.464-14C>T MANE Select	ENSP00000322460.4:n.464-14C>T
ENST00000324727.8:c.464-14C>T	ENSP00000322460.4:n.464-14C>T
ENST00000415030.6:n.607-14C>T
ENST00000423160.2:n.98-14C>T
ENST00000529878.1:c.62-14C>T	ENSP00000436343.1:n.62-14C>T
ENST00000531550.1:n.515C>T
ENST00000532138.1:n.720-14C>T
NM_001142348.1:c.62-14C>T	NP_001135820.1:n.62-14C>T
NM_001142349.1:c.134-14C>T	NP_001135821.1:n.134-14C>T
NM_174934.3:c.464-14C>T , LRG_330t1:c.464-14C>T	NP_777594.1:n.464-14C>T
NR_024527.1:n.489-14C>T
NM_001142348.2:c.62-14C>T	NP_001135820.1:n.62-14C>T
NM_001142349.2:c.134-14C>T	NP_001135821.1:n.134-14C>T
NR_024527.2:n.453-14C>T
NM_174934.4:c.464-14C>T MANE Select	NP_777594.1:n.464-14C>T