Canonical Allele Identifier: CA370623952
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24813905C>T (hg19) chr8:g.24956391C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956391C>T , CM000670.2:g.24956391C>T GRCh38
NC_000008.10:g.24813905C>T , CM000670.1:g.24813905C>T GRCh37
NC_000008.9:g.24869822C>T NCBI36
NG_008492.1:g.5227G>A , LRG_259:g.5227G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.125G>A MANE Select ENSP00000482169.2:p.Ser42Asn
ENST00000610854.1:c.125G>A ENSP00000482169.1:p.Ser42Asn
ENST00000615973.1:n.331G>A
ENST00000619417.1:c.125G>A ENSP00000483690.1:p.Ser42Asn
NM_006158.4:c.125G>A , LRG_259t1:c.125G>A NP_006149.2:p.Ser42Asn
NM_006158.5:c.125G>A MANE Select NP_006149.2:p.Ser42Asn
Search 100 bp 5'
Search 100 bp 3'