Canonical Allele Identifier: CA382777559

Gene: SCN4B

Linked Data

• dbSNP Id: rs1471873887
• gnomAD v2: 11-118011997-A-G
• gnomAD v4: 11-118141282-A-G
• MyVariant Identifiers: chr11:g.118011997A>G (hg19) ; chr11:g.118141282A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141282A>G , CM000673.2:g.118141282A>G	GRCh38
NC_000011.9:g.118011997A>G , CM000673.1:g.118011997A>G	GRCh37
NC_000011.8:g.117517207A>G	NCBI36
NG_011710.1:g.16634T>C , LRG_330:g.16634T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.518T>C MANE Select	ENSP00000322460.4:p.Val173Ala
ENST00000324727.8:c.518T>C	ENSP00000322460.4:p.Val173Ala
ENST00000415030.6:n.661T>C
ENST00000423160.2:n.152T>C
ENST00000529878.1:c.116T>C	ENSP00000436343.1:p.Val39Ala
ENST00000531550.1:n.583T>C
ENST00000532138.1:n.774T>C
NM_001142348.1:c.116T>C	NP_001135820.1:p.Val39Ala
NM_001142349.1:c.188T>C	NP_001135821.1:p.Val63Ala
NM_174934.3:c.518T>C , LRG_330t1:c.518T>C	NP_777594.1:p.Val173Ala
NR_024527.1:n.543T>C
NM_001142348.2:c.116T>C	NP_001135820.1:p.Val39Ala
NM_001142349.2:c.188T>C	NP_001135821.1:p.Val63Ala
NR_024527.2:n.507T>C
NM_174934.4:c.518T>C MANE Select	NP_777594.1:p.Val173Ala