Canonical Allele Identifier: CA382777637

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118012038G>C (hg19) ; chr11:g.118141323G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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