Canonical Allele Identifier: CA460183200

Gene: NEFL

Linked Data

• ClinVar Variation Id: 511829
• ClinVar RCV Id: RCV000609903 ; RCV002384349 ; RCV002531561
• dbSNP Id: rs931901985
• gnomAD v2: 8-24811195-C-T
• gnomAD v4: 8-24953681-C-T
• MyVariant Identifiers: chr8:g.24811195C>T (hg19) ; chr8:g.24953681C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24953681C>T , CM000670.2:g.24953681C>T	GRCh38
NC_000008.10:g.24811195C>T , CM000670.1:g.24811195C>T	GRCh37
NC_000008.9:g.24867112C>T	NCBI36
NG_008492.1:g.7937G>A , LRG_259:g.7937G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.2:c.1284G>A MANE Select	ENSP00000482169.2:p.Gln428=
ENST00000610854.1:c.1284G>A	ENSP00000482169.1:p.Gln428=
ENST00000619417.1:c.*149G>A	ENSP00000483690.1:n.*149G>A
NM_006158.4:c.1284G>A , LRG_259t1:c.1284G>A	NP_006149.2:p.Gln428=
NM_006158.5:c.1284G>A MANE Select	NP_006149.2:p.Gln428=