Canonical Allele Identifier: CA6300358

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 302650
• ClinVar RCV Id: RCV000338499 ; RCV000442011
• dbSNP Id: rs777218649
• ExAC: 11:118023403 C / T
• gnomAD v2: 11-118023403-C-T
• gnomAD v3: 11-118152688-C-T
• gnomAD v4: 11-118152688-C-T
• MyVariant Identifiers: chr11:g.118023403C>T (hg19) ; chr11:g.118152688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118152688C>T , CM000673.2:g.118152688C>T	GRCh38
NC_000011.9:g.118023403C>T , CM000673.1:g.118023403C>T	GRCh37
NC_000011.8:g.117528613C>T	NCBI36
NG_011710.1:g.5228G>A , LRG_330:g.5228G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.-15G>A MANE Select	ENSP00000322460.4:n.-15G>A
ENST00000324727.8:c.-15G>A	ENSP00000322460.4:n.-15G>A
ENST00000529878.1:c.-15G>A	ENSP00000436343.1:n.-15G>A
NM_001142348.1:c.-15G>A	NP_001135820.1:n.-15G>A
NM_174934.3:c.-15G>A , LRG_330t1:c.-15G>A	NP_777594.1:n.-15G>A
NM_001142348.2:c.-15G>A	NP_001135820.1:n.-15G>A
NM_174934.4:c.-15G>A MANE Select	NP_777594.1:n.-15G>A