Canonical Allele Identifier: CA382777636

Gene: SCN4B

Linked Data

• dbSNP Id: rs1217200859
• gnomAD v2: 11-118012038-G-T
• gnomAD v4: 11-118141323-G-T
• MyVariant Identifiers: chr11:g.118012038G>T (hg19) ; chr11:g.118141323G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141323G>T , CM000673.2:g.118141323G>T	GRCh38
NC_000011.9:g.118012038G>T , CM000673.1:g.118012038G>T	GRCh37
NC_000011.8:g.117517248G>T	NCBI36
NG_011710.1:g.16593C>A , LRG_330:g.16593C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.477C>A MANE Select	ENSP00000322460.4:p.Asp159Glu
ENST00000324727.8:c.477C>A	ENSP00000322460.4:p.Asp159Glu
ENST00000415030.6:n.620C>A
ENST00000423160.2:n.111C>A
ENST00000529878.1:c.75C>A	ENSP00000436343.1:p.Asp25Glu
ENST00000531550.1:n.542C>A
ENST00000532138.1:n.733C>A
NM_001142348.1:c.75C>A	NP_001135820.1:p.Asp25Glu
NM_001142349.1:c.147C>A	NP_001135821.1:p.Asp49Glu
NM_174934.3:c.477C>A , LRG_330t1:c.477C>A	NP_777594.1:p.Asp159Glu
NR_024527.1:n.502C>A
NM_001142348.2:c.75C>A	NP_001135820.1:p.Asp25Glu
NM_001142349.2:c.147C>A	NP_001135821.1:p.Asp49Glu
NR_024527.2:n.466C>A
NM_174934.4:c.477C>A MANE Select	NP_777594.1:p.Asp159Glu