Canonical Allele Identifier: CA460019969
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24810174T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952661T>C , CM000670.2:g.24952661T>C GRCh38
NC_000008.10:g.24810174T>C , CM000670.1:g.24810174T>C GRCh37
NC_000008.9:g.24866091T>C NCBI36
NG_008492.1:g.8957A>G , LRG_259:g.8957A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.*149A>G MANE Select ENSP00000482169.2:n.*149A>G
ENST00000610854.1:c.*149A>G ENSP00000482169.1:n.*149A>G
ENST00000619417.1:c.*646A>G ENSP00000483690.1:n.*646A>G
NM_006158.4:c.*149A>G , LRG_259t1:c.*149A>G NP_006149.2:n.*149A>G
NM_006158.5:c.*149A>G MANE Select NP_006149.2:n.*149A>G
Search 100 bp 5'
Search 100 bp 3'