Canonical Allele Identifier: CA370624170
Gene: NEFL HGNC NCBI

Linked Data

ClinVar Variation Id: 579835
ClinVar RCV Id: RCV000703212
dbSNP Id: rs779821785
gnomAD v4: 8-24956458-C-T
MyVariant Identifiers: chr8:g.24813972C>T (hg19) chr8:g.24956458C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956458C>T , CM000670.2:g.24956458C>T GRCh38
NC_000008.10:g.24813972C>T , CM000670.1:g.24813972C>T GRCh37
NC_000008.9:g.24869889C>T NCBI36
NG_008492.1:g.5160G>A , LRG_259:g.5160G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.58G>A MANE Select ENSP00000482169.2:p.Glu20Lys
ENST00000610854.1:c.58G>A ENSP00000482169.1:p.Glu20Lys
ENST00000615973.1:n.264G>A
ENST00000619417.1:c.58G>A ENSP00000483690.1:p.Glu20Lys
NM_006158.4:c.58G>A , LRG_259t1:c.58G>A NP_006149.2:p.Glu20Lys
NM_006158.5:c.58G>A MANE Select NP_006149.2:p.Glu20Lys
Search 100 bp 5'
Search 100 bp 3'