Canonical Allele Identifier: CA217501
Gene: NEFL HGNC NCBI

Linked Data

ClinVar Variation Id: 66676
ClinVar RCV Id: RCV000057118 RCV000311183 RCV000444012 RCV001082150 RCV001173044 RCV002390203
dbSNP Id: rs57153321
ExAC: 8:24811077 C / T
gnomAD v2: 8-24811077-C-T
gnomAD v3: 8-24953563-C-T
gnomAD v4: 8-24953563-C-T
MyVariant Identifiers: chr8:g.24811077C>T (hg19) chr8:g.24953563C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24953563C>T , CM000670.2:g.24953563C>T GRCh38
NC_000008.10:g.24811077C>T , CM000670.1:g.24811077C>T GRCh37
NC_000008.9:g.24866994C>T NCBI36
NG_008492.1:g.8055G>A , LRG_259:g.8055G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.1402G>A MANE Select ENSP00000482169.2:p.Asp468Asn
ENST00000610854.1:c.1402G>A ENSP00000482169.1:p.Asp468Asn
ENST00000619417.1:c.*267G>A ENSP00000483690.1:n.*267G>A
NM_006158.4:c.1402G>A , LRG_259t1:c.1402G>A NP_006149.2:p.Asp468Asn
NM_006158.5:c.1402G>A MANE Select NP_006149.2:p.Asp468Asn
Search 100 bp 5'
Search 100 bp 3'