Canonical Allele Identifier: CA460019325
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1802982279
gnomAD v4: 8-24952443-C-T
MyVariant Identifiers: chr8:g.24809956C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952443C>T , CM000670.2:g.24952443C>T GRCh38
NC_000008.10:g.24809956C>T , CM000670.1:g.24809956C>T GRCh37
NC_000008.9:g.24865873C>T NCBI36
NG_008492.1:g.9175G>A , LRG_259:g.9175G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.*367G>A MANE Select ENSP00000482169.2:n.*367G>A
ENST00000610854.1:c.*367G>A ENSP00000482169.1:n.*367G>A
ENST00000619417.1:c.*864G>A ENSP00000483690.1:n.*864G>A
NM_006158.4:c.*367G>A , LRG_259t1:c.*367G>A NP_006149.2:n.*367G>A
NM_006158.5:c.*367G>A MANE Select NP_006149.2:n.*367G>A
Search 100 bp 5'
Search 100 bp 3'