Canonical Allele Identifier: CA174062465
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1025187973
gnomAD v4: 8-24956715-C-T
MyVariant Identifiers: chr8:g.24814229C>T (hg19) chr8:g.24956715C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956715C>T , CM000670.2:g.24956715C>T GRCh38
NC_000008.10:g.24814229C>T , CM000670.1:g.24814229C>T GRCh37
NC_000008.9:g.24870146C>T NCBI36
NG_008492.1:g.4903G>A , LRG_259:g.4903G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-200G>A ENSP00000482169.1:n.-200G>A
ENST00000615973.1:n.7G>A
NM_006158.4:c.-200G>A , LRG_259t1:c.-200G>A NP_006149.2:n.-200G>A
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