Canonical Allele Identifier: CA460021252
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1262916300
gnomAD v4: 8-24956623-C-T
MyVariant Identifiers: chr8:g.24814137C>T (hg19) chr8:g.24956623C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956623C>T , CM000670.2:g.24956623C>T GRCh38
NC_000008.10:g.24814137C>T , CM000670.1:g.24814137C>T GRCh37
NC_000008.9:g.24870054C>T NCBI36
NG_008492.1:g.4995G>A , LRG_259:g.4995G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-108G>A ENSP00000482169.1:n.-108G>A
ENST00000615973.1:n.99G>A
NM_006158.4:c.-108G>A , LRG_259t1:c.-108G>A NP_006149.2:n.-108G>A
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