Canonical Allele Identifier: CA2003367922
Community Standard Title: NM_174934.4(SCN4B):c.496A= (p.Ile166=)
Gene: SCN4B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118141304T= , CM000673.2:g.118141304T= GRCh38
NC_000011.9:g.118012019T= , CM000673.1:g.118012019T= GRCh37
NC_000011.8:g.117517229T= NCBI36
NG_011710.1:g.16612A= , LRG_330:g.16612A=

Transcript Alleles

HGVS Amino-acid Change
NM_174934.4:c.496A= MANE Select NP_777594.1:p.Ile166=
ENST00000324727.9:c.496A= MANE Select ENSP00000322460.4:p.Ile166=
NM_001142348.1:c.94A= NP_001135820.1:p.Ile32=
NM_001142348.2:c.94A= NP_001135820.1:p.Ile32=
NM_001142349.1:c.166A= NP_001135821.1:p.Ile56=
NM_001142349.2:c.166A= NP_001135821.1:p.Ile56=
NM_174934.3:c.496A= , LRG_330t1:c.496A= NP_777594.1:p.Ile166=
NR_024527.1:n.521A=
NR_024527.2:n.485A=
ENST00000324727.8:c.496A= ENSP00000322460.4:p.Ile166=
ENST00000415030.6:n.639A=
ENST00000423160.2:n.130A=
ENST00000529878.1:c.94A= ENSP00000436343.1:p.Ile32=
ENST00000531550.1:n.561A=
ENST00000532138.1:n.752A=