Canonical Allele Identifier: CA460019341
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24809961G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952448G>C , CM000670.2:g.24952448G>C GRCh38
NC_000008.10:g.24809961G>C , CM000670.1:g.24809961G>C GRCh37
NC_000008.9:g.24865878G>C NCBI36
NG_008492.1:g.9170C>G , LRG_259:g.9170C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.*362C>G MANE Select ENSP00000482169.2:n.*362C>G
ENST00000610854.1:c.*362C>G ENSP00000482169.1:n.*362C>G
ENST00000619417.1:c.*859C>G ENSP00000483690.1:n.*859C>G
NM_006158.4:c.*362C>G , LRG_259t1:c.*362C>G NP_006149.2:n.*362C>G
NM_006158.5:c.*362C>G MANE Select NP_006149.2:n.*362C>G