Canonical Allele Identifier: CA370624193
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24813980C>G (hg19) chr8:g.24956466C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956466C>G , CM000670.2:g.24956466C>G GRCh38
NC_000008.10:g.24813980C>G , CM000670.1:g.24813980C>G GRCh37
NC_000008.9:g.24869897C>G NCBI36
NG_008492.1:g.5152G>C , LRG_259:g.5152G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.50G>C MANE Select ENSP00000482169.2:p.Arg17Pro
ENST00000610854.1:c.50G>C ENSP00000482169.1:p.Arg17Pro
ENST00000615973.1:n.256G>C
ENST00000619417.1:c.50G>C ENSP00000483690.1:p.Arg17Pro
NM_006158.4:c.50G>C , LRG_259t1:c.50G>C NP_006149.2:p.Arg17Pro
NM_006158.5:c.50G>C MANE Select NP_006149.2:p.Arg17Pro
Search 100 bp 5'
Search 100 bp 3'