Canonical Allele Identifier: CA460020833
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24813967C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956453C>G , CM000670.2:g.24956453C>G GRCh38
NC_000008.10:g.24813967C>G , CM000670.1:g.24813967C>G GRCh37
NC_000008.9:g.24869884C>G NCBI36
NG_008492.1:g.5165G>C , LRG_259:g.5165G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.63G>C MANE Select ENSP00000482169.2:p.Thr21=
ENST00000610854.1:c.63G>C ENSP00000482169.1:p.Thr21=
ENST00000615973.1:n.269G>C
ENST00000619417.1:c.63G>C ENSP00000483690.1:p.Thr21=
NM_006158.4:c.63G>C , LRG_259t1:c.63G>C NP_006149.2:p.Thr21=
NM_006158.5:c.63G>C MANE Select NP_006149.2:p.Thr21=