Canonical Allele Identifier: CA6300143

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 2886631
• ClinVar RCV Id: RCV003602891
• dbSNP Id: rs755937444
• ExAC: 11:118007842 A / T
• gnomAD v2: 11-118007842-A-T
• gnomAD v3: 11-118137127-A-T
• gnomAD v4: 11-118137127-A-T
• MyVariant Identifiers: chr11:g.118007842A>T (hg19) ; chr11:g.118137127A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118137127A>T , CM000673.2:g.118137127A>T	GRCh38
NC_000011.9:g.118007842A>T , CM000673.1:g.118007842A>T	GRCh37
NC_000011.8:g.117513052A>T	NCBI36
NG_011710.1:g.20789T>A , LRG_330:g.20789T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.594-7T>A MANE Select	ENSP00000322460.4:n.594-7T>A
ENST00000324727.8:c.594-7T>A	ENSP00000322460.4:n.594-7T>A
ENST00000415030.6:n.737-7T>A
ENST00000423160.2:n.228-7T>A
ENST00000529878.1:c.192-7T>A	ENSP00000436343.1:n.192-7T>A
ENST00000531550.1:n.659-7T>A
NM_001142348.1:c.192-7T>A	NP_001135820.1:n.192-7T>A
NM_001142349.1:c.264-7T>A	NP_001135821.1:n.264-7T>A
NM_174934.3:c.594-7T>A , LRG_330t1:c.594-7T>A	NP_777594.1:n.594-7T>A
NR_024527.1:n.619-7T>A
NM_001142348.2:c.192-7T>A	NP_001135820.1:n.192-7T>A
NM_001142349.2:c.264-7T>A	NP_001135821.1:n.264-7T>A
NR_024527.2:n.583-7T>A
NM_174934.4:c.594-7T>A MANE Select	NP_777594.1:n.594-7T>A