Canonical Allele Identifier: CA370622596

Gene: NEFL

Linked Data

• MyVariant Identifiers: chr8:g.24813650T>A (hg19) ; chr8:g.24956136T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000610854.2:c.380A>T MANE Select	ENSP00000482169.2:p.Gln127Leu
ENST00000610854.1:c.380A>T	ENSP00000482169.1:p.Gln127Leu
ENST00000615973.1:n.586A>T
ENST00000619417.1:c.380A>T	ENSP00000483690.1:p.Gln127Leu
NM_006158.4:c.380A>T , LRG_259t1:c.380A>T	NP_006149.2:p.Gln127Leu
NM_006158.5:c.380A>T MANE Select	NP_006149.2:p.Gln127Leu