Canonical Allele Identifier: CA6300145

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 1895481
• ClinVar RCV Id: RCV002571643
• dbSNP Id: rs777615584
• ExAC: 11:118007850 A / G
• gnomAD v2: 11-118007850-A-G
• gnomAD v4: 11-118137135-A-G
• MyVariant Identifiers: chr11:g.118007850A>G (hg19) ; chr11:g.118137135A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118137135A>G , CM000673.2:g.118137135A>G	GRCh38
NC_000011.9:g.118007850A>G , CM000673.1:g.118007850A>G	GRCh37
NC_000011.8:g.117513060A>G	NCBI36
NG_011710.1:g.20781T>C , LRG_330:g.20781T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.594-15T>C MANE Select	ENSP00000322460.4:n.594-15T>C
ENST00000324727.8:c.594-15T>C	ENSP00000322460.4:n.594-15T>C
ENST00000415030.6:n.737-15T>C
ENST00000423160.2:n.228-15T>C
ENST00000529878.1:c.192-15T>C	ENSP00000436343.1:n.192-15T>C
ENST00000531550.1:n.659-15T>C
NM_001142348.1:c.192-15T>C	NP_001135820.1:n.192-15T>C
NM_001142349.1:c.264-15T>C	NP_001135821.1:n.264-15T>C
NM_174934.3:c.594-15T>C , LRG_330t1:c.594-15T>C	NP_777594.1:n.594-15T>C
NR_024527.1:n.619-15T>C
NM_001142348.2:c.192-15T>C	NP_001135820.1:n.192-15T>C
NM_001142349.2:c.264-15T>C	NP_001135821.1:n.264-15T>C
NR_024527.2:n.583-15T>C
NM_174934.4:c.594-15T>C MANE Select	NP_777594.1:n.594-15T>C