Canonical Allele Identifier: CA174062534
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs974152174
gnomAD v2: 8-24814291-C-A
gnomAD v3: 8-24956777-C-A
gnomAD v4: 8-24956777-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956777C>A , CM000670.2:g.24956777C>A GRCh38
NC_000008.10:g.24814291C>A , CM000670.1:g.24814291C>A GRCh37
NC_000008.9:g.24870208C>A NCBI36
NG_008492.1:g.4841G>T , LRG_259:g.4841G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-262G>T ENSP00000482169.1:n.-262G>T
NM_006158.4:c.-262G>T , LRG_259t1:c.-262G>T NP_006149.2:n.-262G>T