Canonical Allele Identifier: CA217558

Gene: NEFL

Linked Data

• ClinVar Variation Id: 66693
• ClinVar RCV Id: RCV000057140 ; RCV001162498 ; RCV002513733
• dbSNP Id: rs62636518
• ExAC: 8:24813985 C / T
• gnomAD v2: 8-24813985-C-T
• gnomAD v3: 8-24956471-C-T
• gnomAD v4: 8-24956471-C-T
• MyVariant Identifiers: chr8:g.24813985C>T (hg19) ; chr8:g.24956471C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24956471C>T , CM000670.2:g.24956471C>T	GRCh38
NC_000008.10:g.24813985C>T , CM000670.1:g.24813985C>T	GRCh37
NC_000008.9:g.24869902C>T	NCBI36
NG_008492.1:g.5147G>A , LRG_259:g.5147G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.2:c.45G>A MANE Select	ENSP00000482169.2:p.Lys15=
ENST00000610854.1:c.45G>A	ENSP00000482169.1:p.Lys15=
ENST00000615973.1:n.251G>A
ENST00000619417.1:c.45G>A	ENSP00000483690.1:p.Lys15=
NM_006158.4:c.45G>A , LRG_259t1:c.45G>A	NP_006149.2:p.Lys15=
NM_006158.5:c.45G>A MANE Select	NP_006149.2:p.Lys15=