Canonical Allele Identifier: CA10625229
Gene: NEFL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.24951554C>T
GRCh37 chr8:g.24809067C>T
gnomAD v2:
8:24809067 C / T
gnomAD v3:
8:24951554 C / T
gnomAD v4:
chr8-24951554-C-T
Joint Max Group AF 0.86758673 (NFE)
Genomes Max Group AF 0.86758673 (NFE)
ClinVar RCV:
RCV000311138
ClinVar Variation:
362624
dbSNP:
2979704
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24951554C>T , CM000670.2:g.24951554C>T GRCh38
NC_000008.10:g.24809067C>T , CM000670.1:g.24809067C>T GRCh37
NC_000008.9:g.24864984C>T NCBI36
NG_008492.1:g.10064G>A , LRG_259:g.10064G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.*1256G>A MANE Select ENSP00000482169.2:n.*1256G>A
ENST00000610854.1:c.*1256G>A ENSP00000482169.1:n.*1256G>A
NM_006158.4:c.*1256G>A , LRG_259t1:c.*1256G>A NP_006149.2:n.*1256G>A
NM_006158.5:c.*1256G>A MANE Select NP_006149.2:n.*1256G>A
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