Canonical Allele Identifier: CA293304

Gene: SCN4B

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118137075G>A , CM000673.2:g.118137075G>A	GRCh38
NC_000011.9:g.118007790G>A , CM000673.1:g.118007790G>A	GRCh37
NC_000011.8:g.117513000G>A	NCBI36
NG_011710.1:g.20841C>T , LRG_330:g.20841C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.639C>T MANE Select	ENSP00000322460.4:p.Asn213=
ENST00000324727.8:c.639C>T	ENSP00000322460.4:p.Asn213=
ENST00000415030.6:n.782C>T
ENST00000423160.2:n.273C>T
ENST00000529878.1:c.237C>T	ENSP00000436343.1:p.Asn79=
ENST00000531550.1:n.704C>T
NM_001142348.1:c.237C>T	NP_001135820.1:p.Asn79=
NM_001142349.1:c.309C>T	NP_001135821.1:p.Asn103=
NM_174934.3:c.639C>T , LRG_330t1:c.639C>T	NP_777594.1:p.Asn213=
NR_024527.1:n.664C>T
NM_001142348.2:c.237C>T	NP_001135820.1:p.Asn79=
NM_001142349.2:c.309C>T	NP_001135821.1:p.Asn103=
NR_024527.2:n.628C>T
NM_174934.4:c.639C>T MANE Select	NP_777594.1:p.Asn213=