Canonical Allele Identifier: CA460021647
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1279289581
gnomAD v2: 8-24814276-C-T
gnomAD v3: 8-24956762-C-T
gnomAD v4: 8-24956762-C-T
MyVariant Identifiers: chr8:g.24814276C>T (hg19) chr8:g.24956762C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956762C>T , CM000670.2:g.24956762C>T GRCh38
NC_000008.10:g.24814276C>T , CM000670.1:g.24814276C>T GRCh37
NC_000008.9:g.24870193C>T NCBI36
NG_008492.1:g.4856G>A , LRG_259:g.4856G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-247G>A ENSP00000482169.1:n.-247G>A
NM_006158.4:c.-247G>A , LRG_259t1:c.-247G>A NP_006149.2:n.-247G>A
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