Canonical Allele Identifier: CA460183450

Gene: NEFL

Linked Data

• MyVariant Identifiers: chr8:g.24813657G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24956143G>A , CM000670.2:g.24956143G>A	GRCh38
NC_000008.10:g.24813657G>A , CM000670.1:g.24813657G>A	GRCh37
NC_000008.9:g.24869574G>A	NCBI36
NG_008492.1:g.5475C>T , LRG_259:g.5475C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000610854.2:c.373C>T MANE Select	ENSP00000482169.2:p.Leu125=
ENST00000610854.1:c.373C>T	ENSP00000482169.1:p.Leu125=
ENST00000615973.1:n.579C>T
ENST00000619417.1:c.373C>T	ENSP00000483690.1:p.Leu125=
NM_006158.4:c.373C>T , LRG_259t1:c.373C>T	NP_006149.2:p.Leu125=
NM_006158.5:c.373C>T MANE Select	NP_006149.2:p.Leu125=