Canonical Allele Identifier: CA174057373
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs929895838
gnomAD v3: 8-24952456-G-C
gnomAD v4: 8-24952456-G-C
MyVariant Identifiers: chr8:g.24809969G>C (hg19) chr8:g.24952456G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952456G>C , CM000670.2:g.24952456G>C GRCh38
NC_000008.10:g.24809969G>C , CM000670.1:g.24809969G>C GRCh37
NC_000008.9:g.24865886G>C NCBI36
NG_008492.1:g.9162C>G , LRG_259:g.9162C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.*354C>G MANE Select ENSP00000482169.2:n.*354C>G
ENST00000610854.1:c.*354C>G ENSP00000482169.1:n.*354C>G
ENST00000619417.1:c.*851C>G ENSP00000483690.1:n.*851C>G
NM_006158.4:c.*354C>G , LRG_259t1:c.*354C>G NP_006149.2:n.*354C>G
NM_006158.5:c.*354C>G MANE Select NP_006149.2:n.*354C>G
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