Canonical Allele Identifier: CA477077275

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118011993G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141278G>T , CM000673.2:g.118141278G>T	GRCh38
NC_000011.9:g.118011993G>T , CM000673.1:g.118011993G>T	GRCh37
NC_000011.8:g.117517203G>T	NCBI36
NG_011710.1:g.16638C>A , LRG_330:g.16638C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.522C>A MANE Select	ENSP00000322460.4:p.Ile174=
ENST00000324727.8:c.522C>A	ENSP00000322460.4:p.Ile174=
ENST00000415030.6:n.665C>A
ENST00000423160.2:n.156C>A
ENST00000529878.1:c.120C>A	ENSP00000436343.1:p.Ile40=
ENST00000531550.1:n.587C>A
ENST00000532138.1:n.778C>A
NM_001142348.1:c.120C>A	NP_001135820.1:p.Ile40=
NM_001142349.1:c.192C>A	NP_001135821.1:p.Ile64=
NM_174934.3:c.522C>A , LRG_330t1:c.522C>A	NP_777594.1:p.Ile174=
NR_024527.1:n.547C>A
NM_001142348.2:c.120C>A	NP_001135820.1:p.Ile40=
NM_001142349.2:c.192C>A	NP_001135821.1:p.Ile64=
NR_024527.2:n.511C>A
NM_174934.4:c.522C>A MANE Select	NP_777594.1:p.Ile174=