Canonical Allele Identifier: CA460020837
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24813973C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956459C>G , CM000670.2:g.24956459C>G GRCh38
NC_000008.10:g.24813973C>G , CM000670.1:g.24813973C>G GRCh37
NC_000008.9:g.24869890C>G NCBI36
NG_008492.1:g.5159G>C , LRG_259:g.5159G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.57G>C MANE Select ENSP00000482169.2:p.Val19=
ENST00000610854.1:c.57G>C ENSP00000482169.1:p.Val19=
ENST00000615973.1:n.263G>C
ENST00000619417.1:c.57G>C ENSP00000483690.1:p.Val19=
NM_006158.4:c.57G>C , LRG_259t1:c.57G>C NP_006149.2:p.Val19=
NM_006158.5:c.57G>C MANE Select NP_006149.2:p.Val19=