Canonical Allele Identifier: CA460021550
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1393922017
gnomAD v3: 8-24956728-G-T
gnomAD v4: 8-24956728-G-T
MyVariant Identifiers: chr8:g.24814242G>T (hg19) chr8:g.24956728G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956728G>T , CM000670.2:g.24956728G>T GRCh38
NC_000008.10:g.24814242G>T , CM000670.1:g.24814242G>T GRCh37
NC_000008.9:g.24870159G>T NCBI36
NG_008492.1:g.4890C>A , LRG_259:g.4890C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-213C>A ENSP00000482169.1:n.-213C>A
NM_006158.4:c.-213C>A , LRG_259t1:c.-213C>A NP_006149.2:n.-213C>A
Search 100 bp 5'
Search 100 bp 3'