Canonical Allele Identifier: CA460019349
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24809963T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952450T>G , CM000670.2:g.24952450T>G GRCh38
NC_000008.10:g.24809963T>G , CM000670.1:g.24809963T>G GRCh37
NC_000008.9:g.24865880T>G NCBI36
NG_008492.1:g.9168A>C , LRG_259:g.9168A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.*360A>C MANE Select ENSP00000482169.2:n.*360A>C
ENST00000610854.1:c.*360A>C ENSP00000482169.1:n.*360A>C
ENST00000619417.1:c.*857A>C ENSP00000483690.1:n.*857A>C
NM_006158.4:c.*360A>C , LRG_259t1:c.*360A>C NP_006149.2:n.*360A>C
NM_006158.5:c.*360A>C MANE Select NP_006149.2:n.*360A>C
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