Canonical Allele Identifier: CA460021142
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24814099G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956585G>A , CM000670.2:g.24956585G>A GRCh38
NC_000008.10:g.24814099G>A , CM000670.1:g.24814099G>A GRCh37
NC_000008.9:g.24870016G>A NCBI36
NG_008492.1:g.5033C>T , LRG_259:g.5033C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.-70C>T MANE Select ENSP00000482169.2:n.-70C>T
ENST00000610854.1:c.-70C>T ENSP00000482169.1:n.-70C>T
ENST00000615973.1:n.137C>T
ENST00000619417.1:c.-70C>T ENSP00000483690.1:n.-70C>T
NM_006158.4:c.-70C>T , LRG_259t1:c.-70C>T NP_006149.2:n.-70C>T
NM_006158.5:c.-70C>T MANE Select NP_006149.2:n.-70C>T