Canonical Allele Identifier: CA460019678
Gene: NEFL HGNC NCBI

Linked Data

gnomAD v4: 8-24952559-G-T
MyVariant Identifiers: chr8:g.24810072G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952559G>T , CM000670.2:g.24952559G>T GRCh38
NC_000008.10:g.24810072G>T , CM000670.1:g.24810072G>T GRCh37
NC_000008.9:g.24865989G>T NCBI36
NG_008492.1:g.9059C>A , LRG_259:g.9059C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.*251C>A MANE Select ENSP00000482169.2:n.*251C>A
ENST00000610854.1:c.*251C>A ENSP00000482169.1:n.*251C>A
ENST00000619417.1:c.*748C>A ENSP00000483690.1:n.*748C>A
NM_006158.4:c.*251C>A , LRG_259t1:c.*251C>A NP_006149.2:n.*251C>A
NM_006158.5:c.*251C>A MANE Select NP_006149.2:n.*251C>A
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