Canonical Allele Identifier: CA229488486

Gene: SCN4B

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143833G>A , CM000673.2:g.118143833G>A	GRCh38
NC_000011.9:g.118014548G>A , CM000673.1:g.118014548G>A	GRCh37
NC_000011.8:g.117519758G>A	NCBI36
NG_011710.1:g.14083C>T , LRG_330:g.14083C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_174934.4:c.463C>T MANE Select	NP_777594.1:p.Leu155=
ENST00000324727.9:c.463C>T MANE Select	ENSP00000322460.4:p.Leu155=
NM_001142348.1:c.62-2497C>T	NP_001135820.1:n.62-2497C>T
NM_001142348.2:c.62-2497C>T	NP_001135820.1:n.62-2497C>T
NM_001142349.1:c.133C>T	NP_001135821.1:p.Leu45=
NM_001142349.2:c.133C>T	NP_001135821.1:p.Leu45=
NM_174934.3:c.463C>T , LRG_330t1:c.463C>T	NP_777594.1:p.Leu155=
NR_024527.1:n.488+154C>T
NR_024527.2:n.452+154C>T
ENST00000324727.8:c.463C>T	ENSP00000322460.4:p.Leu155=
ENST00000415030.6:n.606C>T
ENST00000529878.1:c.62-2497C>T	ENSP00000436343.1:n.62-2497C>T
ENST00000532138.1:n.719+154C>T