Canonical Allele Identifier: CA2003367893

Gene: SCN4B

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141254C= , CM000673.2:g.118141254C=	GRCh38
NC_000011.9:g.118011969C= , CM000673.1:g.118011969C=	GRCh37
NC_000011.8:g.117517179C=	NCBI36
NG_011710.1:g.16662G= , LRG_330:g.16662G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.546G= MANE Select	ENSP00000322460.4:p.Leu182=
ENST00000324727.8:c.546G=	ENSP00000322460.4:p.Leu182=
ENST00000415030.6:n.689G=
ENST00000423160.2:n.180G=
ENST00000529878.1:c.144G=	ENSP00000436343.1:p.Leu48=
ENST00000531550.1:n.611G=
ENST00000532138.1:n.802G=
NM_001142348.1:c.144G=	NP_001135820.1:p.Leu48=
NM_001142349.1:c.216G=	NP_001135821.1:p.Leu72=
NM_174934.3:c.546G= , LRG_330t1:c.546G=	NP_777594.1:p.Leu182=
NR_024527.1:n.571G=
NM_001142348.2:c.144G=	NP_001135820.1:p.Leu48=
NM_001142349.2:c.216G=	NP_001135821.1:p.Leu72=
NR_024527.2:n.535G=
NM_174934.4:c.546G= MANE Select	NP_777594.1:p.Leu182=