Canonical Allele Identifier: CA460021573

Gene: NEFL

Linked Data

• dbSNP Id: rs1171233721
• gnomAD v4: 8-24956736-G-C
• MyVariant Identifiers: chr8:g.24814250G>C (hg19) ; chr8:g.24956736G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24956736G>C , CM000670.2:g.24956736G>C	GRCh38
NC_000008.10:g.24814250G>C , CM000670.1:g.24814250G>C	GRCh37
NC_000008.9:g.24870167G>C	NCBI36
NG_008492.1:g.4882C>G , LRG_259:g.4882C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.1:c.-221C>G	ENSP00000482169.1:n.-221C>G
NM_006158.4:c.-221C>G , LRG_259t1:c.-221C>G	NP_006149.2:n.-221C>G