Canonical Allele Identifier: CA460019383
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24809973A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952460A>G , CM000670.2:g.24952460A>G GRCh38
NC_000008.10:g.24809973A>G , CM000670.1:g.24809973A>G GRCh37
NC_000008.9:g.24865890A>G NCBI36
NG_008492.1:g.9158T>C , LRG_259:g.9158T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.*350T>C MANE Select ENSP00000482169.2:n.*350T>C
ENST00000610854.1:c.*350T>C ENSP00000482169.1:n.*350T>C
ENST00000619417.1:c.*847T>C ENSP00000483690.1:n.*847T>C
NM_006158.4:c.*350T>C , LRG_259t1:c.*350T>C NP_006149.2:n.*350T>C
NM_006158.5:c.*350T>C MANE Select NP_006149.2:n.*350T>C