Canonical Allele Identifier: CA217507

Gene: NEFL

Linked Data

• ClinVar Variation Id: 66678
• ClinVar RCV Id: RCV000057120 ; RCV000789605 ; RCV001854170
• dbSNP Id: rs151208148
• ExAC: 8:24810463 C / T
• gnomAD v2: 8-24810463-C-T
• gnomAD v3: 8-24952950-C-T
• gnomAD v4: 8-24952950-C-T
• MyVariant Identifiers: chr8:g.24810463C>T (hg19) ; chr8:g.24952950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24952950C>T , CM000670.2:g.24952950C>T	GRCh38
NC_000008.10:g.24810463C>T , CM000670.1:g.24810463C>T	GRCh37
NC_000008.9:g.24866380C>T	NCBI36
NG_008492.1:g.8668G>A , LRG_259:g.8668G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.2:c.1492G>A MANE Select	ENSP00000482169.2:p.Ala498Thr
ENST00000610854.1:c.1492G>A	ENSP00000482169.1:p.Ala498Thr
ENST00000619417.1:c.*357G>A	ENSP00000483690.1:n.*357G>A
NM_006158.4:c.1492G>A , LRG_259t1:c.1492G>A	NP_006149.2:p.Ala498Thr
NM_006158.5:c.1492G>A MANE Select	NP_006149.2:p.Ala498Thr