Canonical Allele Identifier: CA233076
Gene: NEFL HGNC NCBI

Linked Data

ClinVar Variation Id: 155738
ClinVar RCV Id: RCV000143808 RCV000789071 RCV001044771
dbSNP Id: rs587777882
gnomAD v4: 8-24953646-G-A
MyVariant Identifiers: chr8:g.24811160G>A (hg19) chr8:g.24953646G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24953646G>A , CM000670.2:g.24953646G>A GRCh38
NC_000008.10:g.24811160G>A , CM000670.1:g.24811160G>A GRCh37
NC_000008.9:g.24867077G>A NCBI36
NG_008492.1:g.7972C>T , LRG_259:g.7972C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.1319C>T MANE Select ENSP00000482169.2:p.Pro440Leu
ENST00000610854.1:c.1319C>T ENSP00000482169.1:p.Pro440Leu
ENST00000619417.1:c.*184C>T ENSP00000483690.1:n.*184C>T
NM_006158.4:c.1319C>T , LRG_259t1:c.1319C>T NP_006149.2:p.Pro440Leu
NM_006158.5:c.1319C>T MANE Select NP_006149.2:p.Pro440Leu
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