Canonical Allele Identifier: CA10625252
Gene: NEFL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.24952575T>A
GRCh37 chr8:g.24810088T>A
gnomAD v2:
8:24810088 T / A
gnomAD v3:
8:24952575 T / A
gnomAD v4:
chr8-24952575-T-A
Joint Max Group AF 0.87261304 (NFE)
Genomes Max Group AF 0.8676879 (NFE)
Exomes Max Group AF 0.87273476 (NFE)
ClinVar RCV:
RCV000294023
RCV001718784
ClinVar Variation:
362641
dbSNP:
1059111
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952575T>A , CM000670.2:g.24952575T>A GRCh38
NC_000008.10:g.24810088T>A , CM000670.1:g.24810088T>A GRCh37
NC_000008.9:g.24866005T>A NCBI36
NG_008492.1:g.9043A>T , LRG_259:g.9043A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.*235A>T MANE Select ENSP00000482169.2:n.*235A>T
ENST00000610854.1:c.*235A>T ENSP00000482169.1:n.*235A>T
ENST00000619417.1:c.*732A>T ENSP00000483690.1:n.*732A>T
NM_006158.4:c.*235A>T , LRG_259t1:c.*235A>T NP_006149.2:n.*235A>T
NM_006158.5:c.*235A>T MANE Select NP_006149.2:n.*235A>T
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