Canonical Allele Identifier: CA370620729
Community Standard Title: NM_006158.5(NEFL):c.1175T>A (p.Leu392His)
Gene: NEFL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24953790A>T , CM000670.2:g.24953790A>T GRCh38
NC_000008.10:g.24811304A>T , CM000670.1:g.24811304A>T GRCh37
NC_000008.9:g.24867221A>T NCBI36
NG_008492.1:g.7828T>A , LRG_259:g.7828T>A

Transcript Alleles

HGVS Amino-acid Change
NM_006158.5:c.1175T>A MANE Select NP_006149.2:p.Leu392His
ENST00000610854.2:c.1175T>A MANE Select ENSP00000482169.2:p.Leu392His
NM_006158.4:c.1175T>A , LRG_259t1:c.1175T>A NP_006149.2:p.Leu392His
ENST00000610854.1:c.1175T>A ENSP00000482169.1:p.Leu392His
ENST00000619417.1:c.*40T>A ENSP00000483690.1:n.*40T>A
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