Canonical Allele Identifier: CA460021692
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1279261517
gnomAD v2: 8-24814292-G-A
gnomAD v3: 8-24956778-G-A
gnomAD v4: 8-24956778-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956778G>A , CM000670.2:g.24956778G>A GRCh38
NC_000008.10:g.24814292G>A , CM000670.1:g.24814292G>A GRCh37
NC_000008.9:g.24870209G>A NCBI36
NG_008492.1:g.4840C>T , LRG_259:g.4840C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-263C>T ENSP00000482169.1:n.-263C>T
NM_006158.4:c.-263C>T , LRG_259t1:c.-263C>T NP_006149.2:n.-263C>T