Canonical Allele Identifier: CA10627512
Gene: NEFL HGNC NCBI

Linked Data

ClinVar Variation Id: 362635
ClinVar RCV Id: RCV000286843
dbSNP Id: rs562682645
gnomAD v3: 8-24952324-A-C
gnomAD v4: 8-24952324-A-C
MyVariant Identifiers: chr8:g.24809837A>C (hg19) chr8:g.24952324A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952324A>C , CM000670.2:g.24952324A>C GRCh38
NC_000008.10:g.24809837A>C , CM000670.1:g.24809837A>C GRCh37
NC_000008.9:g.24865754A>C NCBI36
NG_008492.1:g.9294T>G , LRG_259:g.9294T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.*486T>G MANE Select ENSP00000482169.2:n.*486T>G
ENST00000610854.1:c.*486T>G ENSP00000482169.1:n.*486T>G
NM_006158.4:c.*486T>G , LRG_259t1:c.*486T>G NP_006149.2:n.*486T>G
NM_006158.5:c.*486T>G MANE Select NP_006149.2:n.*486T>G
Search 100 bp 5'
Search 100 bp 3'