Canonical Allele Identifier: CA163446

Gene: SCN4B

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141315A>C , CM000673.2:g.118141315A>C	GRCh38
NC_000011.9:g.118012030A>C , CM000673.1:g.118012030A>C	GRCh37
NC_000011.8:g.117517240A>C	NCBI36
NG_011710.1:g.16601T>G , LRG_330:g.16601T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_174934.4:c.485T>G MANE Select	NP_777594.1:p.Val162Gly
ENST00000324727.9:c.485T>G MANE Select	ENSP00000322460.4:p.Val162Gly
NM_001142348.1:c.83T>G	NP_001135820.1:p.Val28Gly
NM_001142348.2:c.83T>G	NP_001135820.1:p.Val28Gly
NM_001142349.1:c.155T>G	NP_001135821.1:p.Val52Gly
NM_001142349.2:c.155T>G	NP_001135821.1:p.Val52Gly
NM_174934.3:c.485T>G , LRG_330t1:c.485T>G	NP_777594.1:p.Val162Gly
NR_024527.1:n.510T>G
NR_024527.2:n.474T>G
ENST00000324727.8:c.485T>G	ENSP00000322460.4:p.Val162Gly
ENST00000415030.6:n.628T>G
ENST00000423160.2:n.119T>G
ENST00000529878.1:c.83T>G	ENSP00000436343.1:p.Val28Gly
ENST00000531550.1:n.550T>G
ENST00000532138.1:n.741T>G