Canonical Allele Identifier: CA460019368
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24809969G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952456G>A , CM000670.2:g.24952456G>A GRCh38
NC_000008.10:g.24809969G>A , CM000670.1:g.24809969G>A GRCh37
NC_000008.9:g.24865886G>A NCBI36
NG_008492.1:g.9162C>T , LRG_259:g.9162C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.*354C>T MANE Select ENSP00000482169.2:n.*354C>T
ENST00000610854.1:c.*354C>T ENSP00000482169.1:n.*354C>T
ENST00000619417.1:c.*851C>T ENSP00000483690.1:n.*851C>T
NM_006158.4:c.*354C>T , LRG_259t1:c.*354C>T NP_006149.2:n.*354C>T
NM_006158.5:c.*354C>T MANE Select NP_006149.2:n.*354C>T