Canonical Allele Identifier: CA217536
Gene: NEFL HGNC NCBI

Linked Data

ClinVar Variation Id: 66688
ClinVar RCV Id: RCV000057131 RCV000234847 RCV000789663 RCV002426613
dbSNP Id: rs61491953
MyVariant Identifiers: chr8:g.24814007G>C (hg19) chr8:g.24956493G>C (hg38)
PubMed: PMID:20301384
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956493G>C , CM000670.2:g.24956493G>C GRCh38
NC_000008.10:g.24814007G>C , CM000670.1:g.24814007G>C GRCh37
NC_000008.9:g.24869924G>C NCBI36
NG_008492.1:g.5125C>G , LRG_259:g.5125C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.23C>G MANE Select ENSP00000482169.2:p.Pro8Arg
ENST00000610854.1:c.23C>G ENSP00000482169.1:p.Pro8Arg
ENST00000615973.1:n.229C>G
ENST00000619417.1:c.23C>G ENSP00000483690.1:p.Pro8Arg
NM_006158.4:c.23C>G , LRG_259t1:c.23C>G NP_006149.2:p.Pro8Arg
NM_006158.5:c.23C>G MANE Select NP_006149.2:p.Pro8Arg
Search 100 bp 5'
Search 100 bp 3'