Canonical Allele Identifier: CA460021881
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1803066314
gnomAD v3: 8-24956841-A-C
gnomAD v4: 8-24956841-A-C
MyVariant Identifiers: chr8:g.24814355A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956841A>C , CM000670.2:g.24956841A>C GRCh38
NC_000008.10:g.24814355A>C , CM000670.1:g.24814355A>C GRCh37
NC_000008.9:g.24870272A>C NCBI36
NG_008492.1:g.4777T>G , LRG_259:g.4777T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-326T>G ENSP00000482169.1:n.-326T>G
NM_006158.4:c.-326T>G , LRG_259t1:c.-326T>G NP_006149.2:n.-326T>G
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