Canonical Allele Identifier: CA174062263
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1045930090
gnomAD v2: 8-24814073-C-T
gnomAD v4: 8-24956559-C-T
MyVariant Identifiers: chr8:g.24814073C>T (hg19) chr8:g.24956559C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956559C>T , CM000670.2:g.24956559C>T GRCh38
NC_000008.10:g.24814073C>T , CM000670.1:g.24814073C>T GRCh37
NC_000008.9:g.24869990C>T NCBI36
NG_008492.1:g.5059G>A , LRG_259:g.5059G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.-44G>A MANE Select ENSP00000482169.2:n.-44G>A
ENST00000610854.1:c.-44G>A ENSP00000482169.1:n.-44G>A
ENST00000615973.1:n.163G>A
ENST00000619417.1:c.-44G>A ENSP00000483690.1:n.-44G>A
NM_006158.4:c.-44G>A , LRG_259t1:c.-44G>A NP_006149.2:n.-44G>A
NM_006158.5:c.-44G>A MANE Select NP_006149.2:n.-44G>A
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