Canonical Allele Identifier: CA4681553
Gene: NEFL HGNC NCBI

Linked Data

ClinVar Variation Id: 2890178
ClinVar RCV Id: RCV003629024
dbSNP Id: rs781658190
ExAC: 8:24813942 G / T
gnomAD v2: 8-24813942-G-T
gnomAD v3: 8-24956428-G-T
gnomAD v4: 8-24956428-G-T
MyVariant Identifiers: chr8:g.24813942G>T (hg19) chr8:g.24956428G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956428G>T , CM000670.2:g.24956428G>T GRCh38
NC_000008.10:g.24813942G>T , CM000670.1:g.24813942G>T GRCh37
NC_000008.9:g.24869859G>T NCBI36
NG_008492.1:g.5190C>A , LRG_259:g.5190C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.88C>A MANE Select ENSP00000482169.2:p.Arg30Ser
ENST00000610854.1:c.88C>A ENSP00000482169.1:p.Arg30Ser
ENST00000615973.1:n.294C>A
ENST00000619417.1:c.88C>A ENSP00000483690.1:p.Arg30Ser
NM_006158.4:c.88C>A , LRG_259t1:c.88C>A NP_006149.2:p.Arg30Ser
NM_006158.5:c.88C>A MANE Select NP_006149.2:p.Arg30Ser
Search 100 bp 5'
Search 100 bp 3'