Canonical Allele Identifier: CA10627544
Gene: NEFL HGNC NCBI

Linked Data

ClinVar Variation Id: 362647
ClinVar RCV Id: RCV000322687
dbSNP Id: rs886062835
gnomAD v3: 8-24956375-C-T
gnomAD v4: 8-24956375-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956375C>T , CM000670.2:g.24956375C>T GRCh38
NC_000008.10:g.24813889C>T , CM000670.1:g.24813889C>T GRCh37
NC_000008.9:g.24869806C>T NCBI36
NG_008492.1:g.5243G>A , LRG_259:g.5243G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.141G>A MANE Select ENSP00000482169.2:p.Val47=
ENST00000610854.1:c.141G>A ENSP00000482169.1:p.Val47=
ENST00000615973.1:n.347G>A
ENST00000619417.1:c.141G>A ENSP00000483690.1:p.Val47=
NM_006158.4:c.141G>A , LRG_259t1:c.141G>A NP_006149.2:p.Val47=
NM_006158.5:c.141G>A MANE Select NP_006149.2:p.Val47=