Canonical Allele Identifier: CA460021477
Gene: NEFL HGNC NCBI

Linked Data

gnomAD v4: 8-24956703-A-G
MyVariant Identifiers: chr8:g.24814217A>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956703A>G , CM000670.2:g.24956703A>G GRCh38
NC_000008.10:g.24814217A>G , CM000670.1:g.24814217A>G GRCh37
NC_000008.9:g.24870134A>G NCBI36
NG_008492.1:g.4915T>C , LRG_259:g.4915T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-188T>C ENSP00000482169.1:n.-188T>C
ENST00000615973.1:n.19T>C
NM_006158.4:c.-188T>C , LRG_259t1:c.-188T>C NP_006149.2:n.-188T>C
Search 100 bp 5'
Search 100 bp 3'