Canonical Allele Identifier: CA174057364
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs974292842
gnomAD v3: 8-24952447-G-A
gnomAD v4: 8-24952447-G-A
MyVariant Identifiers: chr8:g.24809960G>A (hg19) chr8:g.24952447G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952447G>A , CM000670.2:g.24952447G>A GRCh38
NC_000008.10:g.24809960G>A , CM000670.1:g.24809960G>A GRCh37
NC_000008.9:g.24865877G>A NCBI36
NG_008492.1:g.9171C>T , LRG_259:g.9171C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.*363C>T MANE Select ENSP00000482169.2:n.*363C>T
ENST00000610854.1:c.*363C>T ENSP00000482169.1:n.*363C>T
ENST00000619417.1:c.*860C>T ENSP00000483690.1:n.*860C>T
NM_006158.4:c.*363C>T , LRG_259t1:c.*363C>T NP_006149.2:n.*363C>T
NM_006158.5:c.*363C>T MANE Select NP_006149.2:n.*363C>T
Search 100 bp 5'
Search 100 bp 3'