Canonical Allele Identifier: CA460021774

Gene: NEFL

Linked Data

• gnomAD v4: 8-24956806-G-A
• MyVariant Identifiers: chr8:g.24814320G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24956806G>A , CM000670.2:g.24956806G>A	GRCh38
NC_000008.10:g.24814320G>A , CM000670.1:g.24814320G>A	GRCh37
NC_000008.9:g.24870237G>A	NCBI36
NG_008492.1:g.4812C>T , LRG_259:g.4812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.1:c.-291C>T	ENSP00000482169.1:n.-291C>T
NM_006158.4:c.-291C>T , LRG_259t1:c.-291C>T	NP_006149.2:n.-291C>T