Canonical Allele Identifier: CA6300191

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 1397893
• ClinVar RCV Id: RCV001912656
• dbSNP Id: rs746647997
• ExAC: 11:118012046 C / G
• gnomAD v2: 11-118012046-C-G
• gnomAD v3: 11-118141331-C-G
• gnomAD v4: 11-118141331-C-G
• MyVariant Identifiers: chr11:g.118012046C>G (hg19) ; chr11:g.118141331C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141331C>G , CM000673.2:g.118141331C>G	GRCh38
NC_000011.9:g.118012046C>G , CM000673.1:g.118012046C>G	GRCh37
NC_000011.8:g.117517256C>G	NCBI36
NG_011710.1:g.16585G>C , LRG_330:g.16585G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.469G>C MANE Select	ENSP00000322460.4:p.Glu157Gln
ENST00000324727.8:c.469G>C	ENSP00000322460.4:p.Glu157Gln
ENST00000415030.6:n.612G>C
ENST00000423160.2:n.103G>C
ENST00000529878.1:c.67G>C	ENSP00000436343.1:p.Glu23Gln
ENST00000531550.1:n.534G>C
ENST00000532138.1:n.725G>C
NM_001142348.1:c.67G>C	NP_001135820.1:p.Glu23Gln
NM_001142349.1:c.139G>C	NP_001135821.1:p.Glu47Gln
NM_174934.3:c.469G>C , LRG_330t1:c.469G>C	NP_777594.1:p.Glu157Gln
NR_024527.1:n.494G>C
NM_001142348.2:c.67G>C	NP_001135820.1:p.Glu23Gln
NM_001142349.2:c.139G>C	NP_001135821.1:p.Glu47Gln
NR_024527.2:n.458G>C
NM_174934.4:c.469G>C MANE Select	NP_777594.1:p.Glu157Gln