Canonical Allele Identifier: CA217558
Gene: NEFL HGNC NCBI

Linked Data

ClinVar Variation Id: 66693
ClinVar RCV Id: RCV000057140 RCV001162498 RCV002513733
dbSNP Id: rs62636518
ExAC: 8:24813985 C / T
gnomAD v2: 8-24813985-C-T
gnomAD v3: 8-24956471-C-T
gnomAD v4: 8-24956471-C-T
MyVariant Identifiers: chr8:g.24813985C>T (hg19) chr8:g.24956471C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956471C>T , CM000670.2:g.24956471C>T GRCh38
NC_000008.10:g.24813985C>T , CM000670.1:g.24813985C>T GRCh37
NC_000008.9:g.24869902C>T NCBI36
NG_008492.1:g.5147G>A , LRG_259:g.5147G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.45G>A MANE Select ENSP00000482169.2:p.Lys15=
ENST00000610854.1:c.45G>A ENSP00000482169.1:p.Lys15=
ENST00000615973.1:n.251G>A
ENST00000619417.1:c.45G>A ENSP00000483690.1:p.Lys15=
NM_006158.4:c.45G>A , LRG_259t1:c.45G>A NP_006149.2:p.Lys15=
NM_006158.5:c.45G>A MANE Select NP_006149.2:p.Lys15=
Search 100 bp 5'
Search 100 bp 3'