Canonical Allele Identifier: CA460020852
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24813984G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956470G>T , CM000670.2:g.24956470G>T GRCh38
NC_000008.10:g.24813984G>T , CM000670.1:g.24813984G>T GRCh37
NC_000008.9:g.24869901G>T NCBI36
NG_008492.1:g.5148C>A , LRG_259:g.5148C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.46C>A MANE Select ENSP00000482169.2:p.Arg16=
ENST00000610854.1:c.46C>A ENSP00000482169.1:p.Arg16=
ENST00000615973.1:n.252C>A
ENST00000619417.1:c.46C>A ENSP00000483690.1:p.Arg16=
NM_006158.4:c.46C>A , LRG_259t1:c.46C>A NP_006149.2:p.Arg16=
NM_006158.5:c.46C>A MANE Select NP_006149.2:p.Arg16=