Canonical Allele Identifier: CA174062297
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs375216117
gnomAD v3: 8-24956596-G-A
gnomAD v4: 8-24956596-G-A
MyVariant Identifiers: chr8:g.24814110G>A (hg19) chr8:g.24956596G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956596G>A , CM000670.2:g.24956596G>A GRCh38
NC_000008.10:g.24814110G>A , CM000670.1:g.24814110G>A GRCh37
NC_000008.9:g.24870027G>A NCBI36
NG_008492.1:g.5022C>T , LRG_259:g.5022C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.-81C>T MANE Select ENSP00000482169.2:n.-81C>T
ENST00000610854.1:c.-81C>T ENSP00000482169.1:n.-81C>T
ENST00000615973.1:n.126C>T
ENST00000619417.1:c.-81C>T ENSP00000483690.1:n.-81C>T
NM_006158.4:c.-81C>T , LRG_259t1:c.-81C>T NP_006149.2:n.-81C>T
NM_006158.5:c.-81C>T MANE Select NP_006149.2:n.-81C>T
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