Canonical Allele Identifier: CA460021433
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1803063750
gnomAD v4: 8-24956686-C-T
MyVariant Identifiers: chr8:g.24814200C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956686C>T , CM000670.2:g.24956686C>T GRCh38
NC_000008.10:g.24814200C>T , CM000670.1:g.24814200C>T GRCh37
NC_000008.9:g.24870117C>T NCBI36
NG_008492.1:g.4932G>A , LRG_259:g.4932G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-171G>A ENSP00000482169.1:n.-171G>A
ENST00000615973.1:n.36G>A
NM_006158.4:c.-171G>A , LRG_259t1:c.-171G>A NP_006149.2:n.-171G>A