Canonical Allele Identifier: CA370624138

Gene: NEFL

Linked Data

• dbSNP Id: rs745353207
• MyVariant Identifiers: chr8:g.24813962C>T (hg19) ; chr8:g.24956448C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24956448C>T , CM000670.2:g.24956448C>T	GRCh38
NC_000008.10:g.24813962C>T , CM000670.1:g.24813962C>T	GRCh37
NC_000008.9:g.24869879C>T	NCBI36
NG_008492.1:g.5170G>A , LRG_259:g.5170G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.2:c.68G>A MANE Select	ENSP00000482169.2:p.Arg23Gln
ENST00000610854.1:c.68G>A	ENSP00000482169.1:p.Arg23Gln
ENST00000615973.1:n.274G>A
ENST00000619417.1:c.68G>A	ENSP00000483690.1:p.Arg23Gln
NM_006158.4:c.68G>A , LRG_259t1:c.68G>A	NP_006149.2:p.Arg23Gln
NM_006158.5:c.68G>A MANE Select	NP_006149.2:p.Arg23Gln