Canonical Allele Identifier: CA4681559
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs779821785
ExAC: 8:24813972 C / G
gnomAD v2: 8-24813972-C-G
gnomAD v4: 8-24956458-C-G
MyVariant Identifiers: chr8:g.24813972C>G (hg19) chr8:g.24956458C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.58G>C MANE Select ENSP00000482169.2:p.Glu20Gln
ENST00000610854.1:c.58G>C ENSP00000482169.1:p.Glu20Gln
ENST00000615973.1:n.264G>C
ENST00000619417.1:c.58G>C ENSP00000483690.1:p.Glu20Gln
NM_006158.4:c.58G>C , LRG_259t1:c.58G>C NP_006149.2:p.Glu20Gln
NM_006158.5:c.58G>C MANE Select NP_006149.2:p.Glu20Gln
Search 100 bp 5'
Search 100 bp 3'