Canonical Allele Identifier: CA4681288

Gene: NEFL

Linked Data

• ClinVar Variation Id: 362646
• ClinVar RCV Id: RCV000356601 ; RCV000640667 ; RCV002379247
• dbSNP Id: rs140532785
• ExAC: 8:24811150 G / A
• gnomAD v2: 8-24811150-G-A
• gnomAD v3: 8-24953636-G-A
• gnomAD v4: 8-24953636-G-A
• MyVariant Identifiers: chr8:g.24811150G>A (hg19) ; chr8:g.24811150_24811155delinsATAGTA (hg19) ; chr8:g.24953636G>A (hg38) ; chr8:g.24953636_24953641delinsATAGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24953636G>A , CM000670.2:g.24953636G>A	GRCh38
NC_000008.10:g.24811150G>A , CM000670.1:g.24811150G>A	GRCh37
NC_000008.9:g.24867067G>A	NCBI36
NG_008492.1:g.7982C>T , LRG_259:g.7982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.2:c.1329C>T MANE Select	ENSP00000482169.2:p.Tyr443=
ENST00000610854.1:c.1329C>T	ENSP00000482169.1:p.Tyr443=
ENST00000619417.1:c.*194C>T	ENSP00000483690.1:n.*194C>T
NM_006158.4:c.1329C>T , LRG_259t1:c.1329C>T	NP_006149.2:p.Tyr443=
NM_006158.5:c.1329C>T MANE Select	NP_006149.2:p.Tyr443=