Canonical Allele Identifier: CA460021636
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1803064871
gnomAD v3: 8-24956758-G-C
gnomAD v4: 8-24956758-G-C
MyVariant Identifiers: chr8:g.24814272G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956758G>C , CM000670.2:g.24956758G>C GRCh38
NC_000008.10:g.24814272G>C , CM000670.1:g.24814272G>C GRCh37
NC_000008.9:g.24870189G>C NCBI36
NG_008492.1:g.4860C>G , LRG_259:g.4860C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-243C>G ENSP00000482169.1:n.-243C>G
NM_006158.4:c.-243C>G , LRG_259t1:c.-243C>G NP_006149.2:n.-243C>G