Canonical Allele Identifier: CA460021231
Gene: NEFL HGNC NCBI

Linked Data

gnomAD v4: 8-24956615-C-G
MyVariant Identifiers: chr8:g.24814129C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956615C>G , CM000670.2:g.24956615C>G GRCh38
NC_000008.10:g.24814129C>G , CM000670.1:g.24814129C>G GRCh37
NC_000008.9:g.24870046C>G NCBI36
NG_008492.1:g.5003G>C , LRG_259:g.5003G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-100G>C ENSP00000482169.1:n.-100G>C
ENST00000615973.1:n.107G>C
NM_006158.4:c.-100G>C , LRG_259t1:c.-100G>C NP_006149.2:n.-100G>C