Canonical Allele Identifier: CA217529
Gene: NEFL HGNC NCBI

Linked Data

ClinVar Variation Id: 66686
ClinVar RCV Id: RCV000057128 RCV000267478 RCV000790247 RCV001087779 RCV001173052 RCV003974942
dbSNP Id: rs58907919
ExAC: 8:24813803 A / G
gnomAD v2: 8-24813803-A-G
gnomAD v3: 8-24956289-A-G
gnomAD v4: 8-24956289-A-G
MyVariant Identifiers: chr8:g.24813803A>G (hg19) chr8:g.24813803_24813804delinsGC (hg19) chr8:g.24956289A>G (hg38) chr8:g.24956289_24956290delinsGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956289A>G , CM000670.2:g.24956289A>G GRCh38
NC_000008.10:g.24813803A>G , CM000670.1:g.24813803A>G GRCh37
NC_000008.9:g.24869720A>G NCBI36
NG_008492.1:g.5329T>C , LRG_259:g.5329T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.227T>C MANE Select ENSP00000482169.2:p.Val76Ala
ENST00000610854.1:c.227T>C ENSP00000482169.1:p.Val76Ala
ENST00000615973.1:n.433T>C
ENST00000619417.1:c.227T>C ENSP00000483690.1:p.Val76Ala
NM_006158.4:c.227T>C , LRG_259t1:c.227T>C NP_006149.2:p.Val76Ala
NM_006158.5:c.227T>C MANE Select NP_006149.2:p.Val76Ala
Search 100 bp 5'
Search 100 bp 3'