Canonical Allele Identifier: CA217568

Gene: NEFL

Linked Data

• ClinVar Variation Id: 14029
• ClinVar RCV Id: RCV000015073 ; RCV000057144 ; RCV000194357 ; RCV000415401 ; RCV000414916 ; RCV001196666 ; RCV002362585
• dbSNP Id: rs28928910
• MyVariant Identifiers: chr8:g.24813966G>A (hg19) ; chr8:g.24956452G>A (hg38)
• PubMed: PMID:12481988 ; PMID:15111691 ; PMID:16452125 ; PMID:20301384

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24956452G>A , CM000670.2:g.24956452G>A	GRCh38
NC_000008.10:g.24813966G>A , CM000670.1:g.24813966G>A	GRCh37
NC_000008.9:g.24869883G>A	NCBI36
NG_008492.1:g.5166C>T , LRG_259:g.5166C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.2:c.64C>T MANE Select	ENSP00000482169.2:p.Pro22Ser
ENST00000610854.1:c.64C>T	ENSP00000482169.1:p.Pro22Ser
ENST00000615973.1:n.270C>T
ENST00000619417.1:c.64C>T	ENSP00000483690.1:p.Pro22Ser
NM_006158.4:c.64C>T , LRG_259t1:c.64C>T	NP_006149.2:p.Pro22Ser
NM_006158.5:c.64C>T MANE Select	NP_006149.2:p.Pro22Ser