Canonical Allele Identifier: CA10605648

Gene: NEFL

Linked Data

• ClinVar Variation Id: 287020
• ClinVar RCV Id: RCV000319997 ; RCV000789666 ; RCV001067080
• dbSNP Id: rs886043551
• gnomAD v4: 8-24956494-G-T
• MyVariant Identifiers: chr8:g.24814008G>T (hg19) ; chr8:g.24956494G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24956494G>T , CM000670.2:g.24956494G>T	GRCh38
NC_000008.10:g.24814008G>T , CM000670.1:g.24814008G>T	GRCh37
NC_000008.9:g.24869925G>T	NCBI36
NG_008492.1:g.5124C>A , LRG_259:g.5124C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.2:c.22C>A MANE Select	ENSP00000482169.2:p.Pro8Thr
ENST00000610854.1:c.22C>A	ENSP00000482169.1:p.Pro8Thr
ENST00000615973.1:n.228C>A
ENST00000619417.1:c.22C>A	ENSP00000483690.1:p.Pro8Thr
NM_006158.4:c.22C>A , LRG_259t1:c.22C>A	NP_006149.2:p.Pro8Thr
NM_006158.5:c.22C>A MANE Select	NP_006149.2:p.Pro8Thr