Canonical Allele Identifier: CA1771659065
Community Standard Title: NM_006158.5(NEFL):c.418G= (p.Glu140=)
Gene: NEFL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956098C= , CM000670.2:g.24956098C= GRCh38
NC_000008.10:g.24813612C= , CM000670.1:g.24813612C= GRCh37
NC_000008.9:g.24869529C= NCBI36
NG_008492.1:g.5520G= , LRG_259:g.5520G=

Transcript Alleles

HGVS Amino-acid Change
NM_006158.5:c.418G= MANE Select NP_006149.2:p.Glu140=
ENST00000610854.2:c.418G= MANE Select ENSP00000482169.2:p.Glu140=
NM_006158.4:c.418G= , LRG_259t1:c.418G= NP_006149.2:p.Glu140=
ENST00000610854.1:c.418G= ENSP00000482169.1:p.Glu140=
ENST00000615973.1:n.624G=
ENST00000619417.1:c.418G= ENSP00000483690.1:p.Glu140=