Canonical Allele Identifier: CA460020840
Gene: NEFL HGNC NCBI

Linked Data

ClinVar Variation Id: 2898299
ClinVar RCV Id: RCV003629650
dbSNP Id: rs1431523432
gnomAD v4: 8-24956462-G-A
MyVariant Identifiers: chr8:g.24813976G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956462G>A , CM000670.2:g.24956462G>A GRCh38
NC_000008.10:g.24813976G>A , CM000670.1:g.24813976G>A GRCh37
NC_000008.9:g.24869893G>A NCBI36
NG_008492.1:g.5156C>T , LRG_259:g.5156C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.54C>T MANE Select ENSP00000482169.2:p.Tyr18=
ENST00000610854.1:c.54C>T ENSP00000482169.1:p.Tyr18=
ENST00000615973.1:n.260C>T
ENST00000619417.1:c.54C>T ENSP00000483690.1:p.Tyr18=
NM_006158.4:c.54C>T , LRG_259t1:c.54C>T NP_006149.2:p.Tyr18=
NM_006158.5:c.54C>T MANE Select NP_006149.2:p.Tyr18=
Search 100 bp 5'
Search 100 bp 3'