Canonical Allele Identifier: CA4681306
Gene: NEFL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.24953704G>T
GRCh37 chr8:g.24811218G>T
gnomAD v2:
8:24811218 G / T
gnomAD v3:
8:24953704 G / T
gnomAD v4:
chr8-24953704-G-T
Joint Max Group AF 0.00018825 (EAS)
Genomes Max Group AF 0.00026344 (EAS)
Exomes Max Group AF 0.00013578 (EAS)
ClinVar RCV:
RCV000526896
ClinVar Variation:
464924
dbSNP:
191346286
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24953704G>T , CM000670.2:g.24953704G>T GRCh38
NC_000008.10:g.24811218G>T , CM000670.1:g.24811218G>T GRCh37
NC_000008.9:g.24867135G>T NCBI36
NG_008492.1:g.7914C>A , LRG_259:g.7914C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.1261C>A MANE Select ENSP00000482169.2:p.Arg421=
ENST00000610854.1:c.1261C>A ENSP00000482169.1:p.Arg421=
ENST00000619417.1:c.*126C>A ENSP00000483690.1:n.*126C>A
NM_006158.4:c.1261C>A , LRG_259t1:c.1261C>A NP_006149.2:p.Arg421=
NM_006158.5:c.1261C>A MANE Select NP_006149.2:p.Arg421=
Search 100 bp 5'
Search 100 bp 3'