Canonical Allele Identifier: CA477077315

Gene: SCN4B

Linked Data

• dbSNP Id: rs754601102
• gnomAD v3: 11-118141332-T-C
• gnomAD v4: 11-118141332-T-C
• MyVariant Identifiers: chr11:g.118012047T>C (hg19) ; chr11:g.118141332T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141332T>C , CM000673.2:g.118141332T>C	GRCh38
NC_000011.9:g.118012047T>C , CM000673.1:g.118012047T>C	GRCh37
NC_000011.8:g.117517257T>C	NCBI36
NG_011710.1:g.16584A>G , LRG_330:g.16584A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.468A>G MANE Select	ENSP00000322460.4:p.Glu156=
ENST00000324727.8:c.468A>G	ENSP00000322460.4:p.Glu156=
ENST00000415030.6:n.611A>G
ENST00000423160.2:n.102A>G
ENST00000529878.1:c.66A>G	ENSP00000436343.1:p.Glu22=
ENST00000531550.1:n.533A>G
ENST00000532138.1:n.724A>G
NM_001142348.1:c.66A>G	NP_001135820.1:p.Glu22=
NM_001142349.1:c.138A>G	NP_001135821.1:p.Glu46=
NM_174934.3:c.468A>G , LRG_330t1:c.468A>G	NP_777594.1:p.Glu156=
NR_024527.1:n.493A>G
NM_001142348.2:c.66A>G	NP_001135820.1:p.Glu22=
NM_001142349.2:c.138A>G	NP_001135821.1:p.Glu46=
NR_024527.2:n.457A>G
NM_174934.4:c.468A>G MANE Select	NP_777594.1:p.Glu156=