Canonical Allele Identifier: CA460020775

Gene: NEFL

Linked Data

• gnomAD v4: 8-24956378-C-A
• MyVariant Identifiers: chr8:g.24813892C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24956378C>A , CM000670.2:g.24956378C>A	GRCh38
NC_000008.10:g.24813892C>A , CM000670.1:g.24813892C>A	GRCh37
NC_000008.9:g.24869809C>A	NCBI36
NG_008492.1:g.5240G>T , LRG_259:g.5240G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.2:c.138G>T MANE Select	ENSP00000482169.2:p.Pro46=
ENST00000610854.1:c.138G>T	ENSP00000482169.1:p.Pro46=
ENST00000615973.1:n.344G>T
ENST00000619417.1:c.138G>T	ENSP00000483690.1:p.Pro46=
NM_006158.4:c.138G>T , LRG_259t1:c.138G>T	NP_006149.2:p.Pro46=
NM_006158.5:c.138G>T MANE Select	NP_006149.2:p.Pro46=