Canonical Allele Identifier: CA370623906

Gene: NEFL

Linked Data

• gnomAD v4: 8-24956377-C-T
• MyVariant Identifiers: chr8:g.24813891C>T (hg19) ; chr8:g.24956377C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24956377C>T , CM000670.2:g.24956377C>T	GRCh38
NC_000008.10:g.24813891C>T , CM000670.1:g.24813891C>T	GRCh37
NC_000008.9:g.24869808C>T	NCBI36
NG_008492.1:g.5241G>A , LRG_259:g.5241G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.2:c.139G>A MANE Select	ENSP00000482169.2:p.Val47Met
ENST00000610854.1:c.139G>A	ENSP00000482169.1:p.Val47Met
ENST00000615973.1:n.345G>A
ENST00000619417.1:c.139G>A	ENSP00000483690.1:p.Val47Met
NM_006158.4:c.139G>A , LRG_259t1:c.139G>A	NP_006149.2:p.Val47Met
NM_006158.5:c.139G>A MANE Select	NP_006149.2:p.Val47Met