Canonical Allele Identifier: CA460021151
Gene: NEFL HGNC NCBI

Linked Data

gnomAD v4: 8-24956587-A-G
MyVariant Identifiers: chr8:g.24814101A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956587A>G , CM000670.2:g.24956587A>G GRCh38
NC_000008.10:g.24814101A>G , CM000670.1:g.24814101A>G GRCh37
NC_000008.9:g.24870018A>G NCBI36
NG_008492.1:g.5031T>C , LRG_259:g.5031T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.-72T>C MANE Select ENSP00000482169.2:n.-72T>C
ENST00000610854.1:c.-72T>C ENSP00000482169.1:n.-72T>C
ENST00000615973.1:n.135T>C
ENST00000619417.1:c.-72T>C ENSP00000483690.1:n.-72T>C
NM_006158.4:c.-72T>C , LRG_259t1:c.-72T>C NP_006149.2:n.-72T>C
NM_006158.5:c.-72T>C MANE Select NP_006149.2:n.-72T>C
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