Canonical Allele Identifier: CA460021322
Gene: NEFL HGNC NCBI

Linked Data

gnomAD v4: 8-24956648-C-A
MyVariant Identifiers: chr8:g.24814162C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956648C>A , CM000670.2:g.24956648C>A GRCh38
NC_000008.10:g.24814162C>A , CM000670.1:g.24814162C>A GRCh37
NC_000008.9:g.24870079C>A NCBI36
NG_008492.1:g.4970G>T , LRG_259:g.4970G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-133G>T ENSP00000482169.1:n.-133G>T
ENST00000615973.1:n.74G>T
NM_006158.4:c.-133G>T , LRG_259t1:c.-133G>T NP_006149.2:n.-133G>T
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