Canonical Allele Identifier: CA460021430
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs2117256393
gnomAD v4: 8-24956685-A-G
MyVariant Identifiers: chr8:g.24814199A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956685A>G , CM000670.2:g.24956685A>G GRCh38
NC_000008.10:g.24814199A>G , CM000670.1:g.24814199A>G GRCh37
NC_000008.9:g.24870116A>G NCBI36
NG_008492.1:g.4933T>C , LRG_259:g.4933T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-170T>C ENSP00000482169.1:n.-170T>C
ENST00000615973.1:n.37T>C
NM_006158.4:c.-170T>C , LRG_259t1:c.-170T>C NP_006149.2:n.-170T>C
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