Canonical Allele Identifier: CA6300141

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 403961
• ClinVar RCV Id: RCV000461488
• dbSNP Id: rs758628437
• ExAC: 11:118007833 T / C
• gnomAD v2: 11-118007833-T-C
• gnomAD v4: 11-118137118-T-C
• MyVariant Identifiers: chr11:g.118007833T>C (hg19) ; chr11:g.118137118T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118137118T>C , CM000673.2:g.118137118T>C	GRCh38
NC_000011.9:g.118007833T>C , CM000673.1:g.118007833T>C	GRCh37
NC_000011.8:g.117513043T>C	NCBI36
NG_011710.1:g.20798A>G , LRG_330:g.20798A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.596A>G MANE Select	ENSP00000322460.4:p.Lys199Arg
ENST00000324727.8:c.596A>G	ENSP00000322460.4:p.Lys199Arg
ENST00000415030.6:n.739A>G
ENST00000423160.2:n.230A>G
ENST00000529878.1:c.194A>G	ENSP00000436343.1:p.Lys65Arg
ENST00000531550.1:n.661A>G
NM_001142348.1:c.194A>G	NP_001135820.1:p.Lys65Arg
NM_001142349.1:c.266A>G	NP_001135821.1:p.Lys89Arg
NM_174934.3:c.596A>G , LRG_330t1:c.596A>G	NP_777594.1:p.Lys199Arg
NR_024527.1:n.621A>G
NM_001142348.2:c.194A>G	NP_001135820.1:p.Lys65Arg
NM_001142349.2:c.266A>G	NP_001135821.1:p.Lys89Arg
NR_024527.2:n.585A>G
NM_174934.4:c.596A>G MANE Select	NP_777594.1:p.Lys199Arg