Canonical Allele Identifier: CA460021202
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24814119C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956605C>G , CM000670.2:g.24956605C>G GRCh38
NC_000008.10:g.24814119C>G , CM000670.1:g.24814119C>G GRCh37
NC_000008.9:g.24870036C>G NCBI36
NG_008492.1:g.5013G>C , LRG_259:g.5013G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.-90G>C MANE Select ENSP00000482169.2:n.-90G>C
ENST00000610854.1:c.-90G>C ENSP00000482169.1:n.-90G>C
ENST00000615973.1:n.117G>C
ENST00000619417.1:c.-90G>C ENSP00000483690.1:n.-90G>C
NM_006158.4:c.-90G>C , LRG_259t1:c.-90G>C NP_006149.2:n.-90G>C
NM_006158.5:c.-90G>C MANE Select NP_006149.2:n.-90G>C