Canonical Allele Identifier: CA1771659170
Gene: NEFL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956136T= , CM000670.2:g.24956136T= GRCh38
NC_000008.10:g.24813650T= , CM000670.1:g.24813650T= GRCh37
NC_000008.9:g.24869567T= NCBI36
NG_008492.1:g.5482A= , LRG_259:g.5482A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.380A= MANE Select ENSP00000482169.2:p.Gln127=
ENST00000610854.1:c.380A= ENSP00000482169.1:p.Gln127=
ENST00000615973.1:n.586A=
ENST00000619417.1:c.380A= ENSP00000483690.1:p.Gln127=
NM_006158.4:c.380A= , LRG_259t1:c.380A= NP_006149.2:p.Gln127=
NM_006158.5:c.380A= MANE Select NP_006149.2:p.Gln127=