Canonical Allele Identifier: CA460021282
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1371909191
gnomAD v3: 8-24956633-C-A
gnomAD v4: 8-24956633-C-A
MyVariant Identifiers: chr8:g.24814147C>A (hg19) chr8:g.24956633C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956633C>A , CM000670.2:g.24956633C>A GRCh38
NC_000008.10:g.24814147C>A , CM000670.1:g.24814147C>A GRCh37
NC_000008.9:g.24870064C>A NCBI36
NG_008492.1:g.4985G>T , LRG_259:g.4985G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-118G>T ENSP00000482169.1:n.-118G>T
ENST00000615973.1:n.89G>T
NM_006158.4:c.-118G>T , LRG_259t1:c.-118G>T NP_006149.2:n.-118G>T
Search 100 bp 5'
Search 100 bp 3'