Canonical Allele Identifier: CA477077304

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118012029C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141314C>G , CM000673.2:g.118141314C>G	GRCh38
NC_000011.9:g.118012029C>G , CM000673.1:g.118012029C>G	GRCh37
NC_000011.8:g.117517239C>G	NCBI36
NG_011710.1:g.16602G>C , LRG_330:g.16602G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.486G>C MANE Select	ENSP00000322460.4:p.Val162=
ENST00000324727.8:c.486G>C	ENSP00000322460.4:p.Val162=
ENST00000415030.6:n.629G>C
ENST00000423160.2:n.120G>C
ENST00000529878.1:c.84G>C	ENSP00000436343.1:p.Val28=
ENST00000531550.1:n.551G>C
ENST00000532138.1:n.742G>C
NM_001142348.1:c.84G>C	NP_001135820.1:p.Val28=
NM_001142349.1:c.156G>C	NP_001135821.1:p.Val52=
NM_174934.3:c.486G>C , LRG_330t1:c.486G>C	NP_777594.1:p.Val162=
NR_024527.1:n.511G>C
NM_001142348.2:c.84G>C	NP_001135820.1:p.Val28=
NM_001142349.2:c.156G>C	NP_001135821.1:p.Val52=
NR_024527.2:n.475G>C
NM_174934.4:c.486G>C MANE Select	NP_777594.1:p.Val162=