Canonical Allele Identifier: CA460019327
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24809957G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952444G>C , CM000670.2:g.24952444G>C GRCh38
NC_000008.10:g.24809957G>C , CM000670.1:g.24809957G>C GRCh37
NC_000008.9:g.24865874G>C NCBI36
NG_008492.1:g.9174C>G , LRG_259:g.9174C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.*366C>G MANE Select ENSP00000482169.2:n.*366C>G
ENST00000610854.1:c.*366C>G ENSP00000482169.1:n.*366C>G
ENST00000619417.1:c.*863C>G ENSP00000483690.1:n.*863C>G
NM_006158.4:c.*366C>G , LRG_259t1:c.*366C>G NP_006149.2:n.*366C>G
NM_006158.5:c.*366C>G MANE Select NP_006149.2:n.*366C>G