Canonical Allele Identifier: CA460021868
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1803066288
gnomAD v3: 8-24956837-C-A
gnomAD v4: 8-24956837-C-A
MyVariant Identifiers: chr8:g.24814351C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956837C>A , CM000670.2:g.24956837C>A GRCh38
NC_000008.10:g.24814351C>A , CM000670.1:g.24814351C>A GRCh37
NC_000008.9:g.24870268C>A NCBI36
NG_008492.1:g.4781G>T , LRG_259:g.4781G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-322G>T ENSP00000482169.1:n.-322G>T
NM_006158.4:c.-322G>T , LRG_259t1:c.-322G>T NP_006149.2:n.-322G>T