Canonical Allele Identifier: CA217552

Gene: NEFL

Linked Data

• ClinVar Variation Id: 66692
• ClinVar RCV Id: RCV000057138 ; RCV000609209 ; RCV001079790 ; RCV001173048
• dbSNP Id: rs59161567
• ExAC: 8:24813607 C / T
• gnomAD v2: 8-24813607-C-T
• gnomAD v3: 8-24956093-C-T
• gnomAD v4: 8-24956093-C-T
• MyVariant Identifiers: chr8:g.24813607C>T (hg19) ; chr8:g.24956093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24956093C>T , CM000670.2:g.24956093C>T	GRCh38
NC_000008.10:g.24813607C>T , CM000670.1:g.24813607C>T	GRCh37
NC_000008.9:g.24869524C>T	NCBI36
NG_008492.1:g.5525G>A , LRG_259:g.5525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.2:c.423G>A MANE Select	ENSP00000482169.2:p.Gln141=
ENST00000610854.1:c.423G>A	ENSP00000482169.1:p.Gln141=
ENST00000615973.1:n.629G>A
ENST00000619417.1:c.423G>A	ENSP00000483690.1:p.Gln141=
NM_006158.4:c.423G>A , LRG_259t1:c.423G>A	NP_006149.2:p.Gln141=
NM_006158.5:c.423G>A MANE Select	NP_006149.2:p.Gln141=