Canonical Allele Identifier: CA460016511
Gene: NEFL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24951554C>G , CM000670.2:g.24951554C>G GRCh38
NC_000008.10:g.24809067C>G , CM000670.1:g.24809067C>G GRCh37
NC_000008.9:g.24864984C>G NCBI36
NG_008492.1:g.10064G>C , LRG_259:g.10064G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.*1256G>C MANE Select ENSP00000482169.2:n.*1256G>C
ENST00000610854.1:c.*1256G>C ENSP00000482169.1:n.*1256G>C
NM_006158.4:c.*1256G>C , LRG_259t1:c.*1256G>C NP_006149.2:n.*1256G>C
NM_006158.5:c.*1256G>C MANE Select NP_006149.2:n.*1256G>C