Canonical Allele Identifier: CA348057

Gene: NEFL

Linked Data

• ClinVar Variation Id: 220209
• ClinVar RCV Id: RCV000235949 ; RCV000764772 ; RCV001081473 ; RCV001657993 ; RCV002390546
• dbSNP Id: rs377121179
• ExAC: 8:24810345 T / C
• gnomAD v2: 8-24810345-T-C
• gnomAD v3: 8-24952832-T-C
• gnomAD v4: 8-24952832-T-C
• MyVariant Identifiers: chr8:g.24810345T>C (hg19) ; chr8:g.24952832T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24952832T>C , CM000670.2:g.24952832T>C	GRCh38
NC_000008.10:g.24810345T>C , CM000670.1:g.24810345T>C	GRCh37
NC_000008.9:g.24866262T>C	NCBI36
NG_008492.1:g.8786A>G , LRG_259:g.8786A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.2:c.1610A>G MANE Select	ENSP00000482169.2:p.Gln537Arg
ENST00000610854.1:c.1610A>G	ENSP00000482169.1:p.Gln537Arg
ENST00000619417.1:c.*475A>G	ENSP00000483690.1:n.*475A>G
NM_006158.4:c.1610A>G , LRG_259t1:c.1610A>G	NP_006149.2:p.Gln537Arg
NM_006158.5:c.1610A>G MANE Select	NP_006149.2:p.Gln537Arg