Canonical Allele Identifier: CA370624176
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24813975C>A (hg19) chr8:g.24956461C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956461C>A , CM000670.2:g.24956461C>A GRCh38
NC_000008.10:g.24813975C>A , CM000670.1:g.24813975C>A GRCh37
NC_000008.9:g.24869892C>A NCBI36
NG_008492.1:g.5157G>T , LRG_259:g.5157G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.55G>T MANE Select ENSP00000482169.2:p.Val19Leu
ENST00000610854.1:c.55G>T ENSP00000482169.1:p.Val19Leu
ENST00000615973.1:n.261G>T
ENST00000619417.1:c.55G>T ENSP00000483690.1:p.Val19Leu
NM_006158.4:c.55G>T , LRG_259t1:c.55G>T NP_006149.2:p.Val19Leu
NM_006158.5:c.55G>T MANE Select NP_006149.2:p.Val19Leu
Search 100 bp 5'
Search 100 bp 3'