Canonical Allele Identifier: CA460019339

Gene: NEFL

Linked Data

• dbSNP Id: rs2117250238
• gnomAD v4: 8-24952448-G-A
• MyVariant Identifiers: chr8:g.24809961G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24952448G>A , CM000670.2:g.24952448G>A	GRCh38
NC_000008.10:g.24809961G>A , CM000670.1:g.24809961G>A	GRCh37
NC_000008.9:g.24865878G>A	NCBI36
NG_008492.1:g.9170C>T , LRG_259:g.9170C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.2:c.*362C>T MANE Select	ENSP00000482169.2:n.*362C>T
ENST00000610854.1:c.*362C>T	ENSP00000482169.1:n.*362C>T
ENST00000619417.1:c.*859C>T	ENSP00000483690.1:n.*859C>T
NM_006158.4:c.*362C>T , LRG_259t1:c.*362C>T	NP_006149.2:n.*362C>T
NM_006158.5:c.*362C>T MANE Select	NP_006149.2:n.*362C>T