Canonical Allele Identifier: CA274856

Gene: NEFL

Linked Data

• ClinVar Variation Id: 192322
• ClinVar RCV Id: RCV000172912 ; RCV001174357
• dbSNP Id: rs191346286
• gnomAD v4: 8-24953704-G-A
• MyVariant Identifiers: chr8:g.24811218G>A (hg19) ; chr8:g.24953704G>A (hg38)
• PubMed: PMID:25264603

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24953704G>A , CM000670.2:g.24953704G>A	GRCh38
NC_000008.10:g.24811218G>A , CM000670.1:g.24811218G>A	GRCh37
NC_000008.9:g.24867135G>A	NCBI36
NG_008492.1:g.7914C>T , LRG_259:g.7914C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.2:c.1261C>T MANE Select	ENSP00000482169.2:p.Arg421Ter
ENST00000610854.1:c.1261C>T	ENSP00000482169.1:p.Arg421Ter
ENST00000619417.1:c.*126C>T	ENSP00000483690.1:n.*126C>T
NM_006158.4:c.1261C>T , LRG_259t1:c.1261C>T	NP_006149.2:p.Arg421Ter
NM_006158.5:c.1261C>T MANE Select	NP_006149.2:p.Arg421Ter