Canonical Allele Identifier: CA10627537

Gene: NEFL

Linked Data

• ClinVar Variation Id: 362643
• ClinVar RCV Id: RCV000389986 ; RCV001576225
• dbSNP Id: rs34505194
• gnomAD v2: 8-24810222-T-C
• gnomAD v3: 8-24952709-T-C
• gnomAD v4: 8-24952709-T-C
• MyVariant Identifiers: chr8:g.24810222T>C (hg19) ; chr8:g.24952709T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24952709T>C , CM000670.2:g.24952709T>C	GRCh38
NC_000008.10:g.24810222T>C , CM000670.1:g.24810222T>C	GRCh37
NC_000008.9:g.24866139T>C	NCBI36
NG_008492.1:g.8909A>G , LRG_259:g.8909A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000610854.2:c.*101A>G MANE Select	ENSP00000482169.2:n.*101A>G
ENST00000610854.1:c.*101A>G	ENSP00000482169.1:n.*101A>G
ENST00000619417.1:c.*598A>G	ENSP00000483690.1:n.*598A>G
NM_006158.4:c.*101A>G , LRG_259t1:c.*101A>G	NP_006149.2:n.*101A>G
NM_006158.5:c.*101A>G MANE Select	NP_006149.2:n.*101A>G