Canonical Allele Identifier: CA350731

Gene: NEFL

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24955548C>G , CM000670.2:g.24955548C>G	GRCh38
NC_000008.10:g.24813062C>G , CM000670.1:g.24813062C>G	GRCh37
NC_000008.9:g.24868979C>G	NCBI36
NG_008492.1:g.6070G>C , LRG_259:g.6070G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006158.5:c.968G>C MANE Select	NP_006149.2:p.Arg323Pro
ENST00000610854.2:c.968G>C MANE Select	ENSP00000482169.2:p.Arg323Pro
NM_006158.4:c.968G>C , LRG_259t1:c.968G>C	NP_006149.2:p.Arg323Pro
ENST00000610854.1:c.968G>C	ENSP00000482169.1:p.Arg323Pro
ENST00000615973.1:n.1174G>C
ENST00000619417.1:c.689G>C	ENSP00000483690.1:p.Arg230Pro