Canonical Allele Identifier: CA174057347
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs894774335
gnomAD v2: 8-24809957-G-A
gnomAD v3: 8-24952444-G-A
gnomAD v4: 8-24952444-G-A
MyVariant Identifiers: chr8:g.24809957G>A (hg19) chr8:g.24952444G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952444G>A , CM000670.2:g.24952444G>A GRCh38
NC_000008.10:g.24809957G>A , CM000670.1:g.24809957G>A GRCh37
NC_000008.9:g.24865874G>A NCBI36
NG_008492.1:g.9174C>T , LRG_259:g.9174C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.*366C>T MANE Select ENSP00000482169.2:n.*366C>T
ENST00000610854.1:c.*366C>T ENSP00000482169.1:n.*366C>T
ENST00000619417.1:c.*863C>T ENSP00000483690.1:n.*863C>T
NM_006158.4:c.*366C>T , LRG_259t1:c.*366C>T NP_006149.2:n.*366C>T
NM_006158.5:c.*366C>T MANE Select NP_006149.2:n.*366C>T
Search 100 bp 5'
Search 100 bp 3'