Canonical Allele Identifier: CA460019947
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24810166C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952653C>T , CM000670.2:g.24952653C>T GRCh38
NC_000008.10:g.24810166C>T , CM000670.1:g.24810166C>T GRCh37
NC_000008.9:g.24866083C>T NCBI36
NG_008492.1:g.8965G>A , LRG_259:g.8965G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.*157G>A MANE Select ENSP00000482169.2:n.*157G>A
ENST00000610854.1:c.*157G>A ENSP00000482169.1:n.*157G>A
ENST00000619417.1:c.*654G>A ENSP00000483690.1:n.*654G>A
NM_006158.4:c.*157G>A , LRG_259t1:c.*157G>A NP_006149.2:n.*157G>A
NM_006158.5:c.*157G>A MANE Select NP_006149.2:n.*157G>A