Canonical Allele Identifier: CA174062453
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs992373134
gnomAD v4: 8-24956708-G-A
MyVariant Identifiers: chr8:g.24814222G>A (hg19) chr8:g.24956708G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956708G>A , CM000670.2:g.24956708G>A GRCh38
NC_000008.10:g.24814222G>A , CM000670.1:g.24814222G>A GRCh37
NC_000008.9:g.24870139G>A NCBI36
NG_008492.1:g.4910C>T , LRG_259:g.4910C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-193C>T ENSP00000482169.1:n.-193C>T
ENST00000615973.1:n.14C>T
NM_006158.4:c.-193C>T , LRG_259t1:c.-193C>T NP_006149.2:n.-193C>T
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