Canonical Allele Identifier: CA2616225902

Gene: SCN4B

Linked Data

• gnomAD v4: 11-118137132-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118137132G>A , CM000673.2:g.118137132G>A	GRCh38
NC_000011.9:g.118007847G>A , CM000673.1:g.118007847G>A	GRCh37
NC_000011.8:g.117513057G>A	NCBI36
NG_011710.1:g.20784C>T , LRG_330:g.20784C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.594-12C>T MANE Select	ENSP00000322460.4:n.594-12C>T
ENST00000324727.8:c.594-12C>T	ENSP00000322460.4:n.594-12C>T
ENST00000415030.6:n.737-12C>T
ENST00000423160.2:n.228-12C>T
ENST00000529878.1:c.192-12C>T	ENSP00000436343.1:n.192-12C>T
ENST00000531550.1:n.659-12C>T
NM_001142348.1:c.192-12C>T	NP_001135820.1:n.192-12C>T
NM_001142349.1:c.264-12C>T	NP_001135821.1:n.264-12C>T
NM_174934.3:c.594-12C>T , LRG_330t1:c.594-12C>T	NP_777594.1:n.594-12C>T
NR_024527.1:n.619-12C>T
NM_001142348.2:c.192-12C>T	NP_001135820.1:n.192-12C>T
NM_001142349.2:c.264-12C>T	NP_001135821.1:n.264-12C>T
NR_024527.2:n.583-12C>T
NM_174934.4:c.594-12C>T MANE Select	NP_777594.1:n.594-12C>T