Canonical Allele Identifier: CA10630716
Gene: NEFL HGNC NCBI

Linked Data

ClinVar Variation Id: 362642
ClinVar RCV Id: RCV000351230
dbSNP Id: rs886062834

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952639G>C , CM000670.2:g.24952639G>C GRCh38
NC_000008.10:g.24810152G>C , CM000670.1:g.24810152G>C GRCh37
NC_000008.9:g.24866069G>C NCBI36
NG_008492.1:g.8979C>G , LRG_259:g.8979C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.*171C>G MANE Select ENSP00000482169.2:p.=
ENST00000610854.1:c.*171C>G ENSP00000482169.1:p.=
ENST00000619417.1:c.*668C>G ENSP00000483690.1:p.=
NM_006158.4:c.*171C>G , LRG_259t1:c.*171C>G NP_006149.2:p.=
NM_006158.5:c.*171C>G MANE Select NP_006149.2:p.=