Canonical Allele Identifier: CA6300182

Gene: SCN4B

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141295C>T , CM000673.2:g.118141295C>T	GRCh38
NC_000011.9:g.118012010C>T , CM000673.1:g.118012010C>T	GRCh37
NC_000011.8:g.117517220C>T	NCBI36
NG_011710.1:g.16621G>A , LRG_330:g.16621G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_174934.4:c.505G>A MANE Select	NP_777594.1:p.Val169Ile
ENST00000324727.9:c.505G>A MANE Select	ENSP00000322460.4:p.Val169Ile
NM_001142348.1:c.103G>A	NP_001135820.1:p.Val35Ile
NM_001142348.2:c.103G>A	NP_001135820.1:p.Val35Ile
NM_001142349.1:c.175G>A	NP_001135821.1:p.Val59Ile
NM_001142349.2:c.175G>A	NP_001135821.1:p.Val59Ile
NM_174934.3:c.505G>A , LRG_330t1:c.505G>A	NP_777594.1:p.Val169Ile
NR_024527.1:n.530G>A
NR_024527.2:n.494G>A
ENST00000324727.8:c.505G>A	ENSP00000322460.4:p.Val169Ile
ENST00000415030.6:n.648G>A
ENST00000423160.2:n.139G>A
ENST00000529878.1:c.103G>A	ENSP00000436343.1:p.Val35Ile
ENST00000531550.1:n.570G>A
ENST00000532138.1:n.761G>A