Canonical Allele Identifier: CA174062529
Gene: NEFL HGNC NCBI

Linked Data

ClinVar Variation Id: 911828
ClinVar RCV Id: RCV001164539
dbSNP Id: rs769348830
gnomAD v2: 8-24814287-G-C
gnomAD v3: 8-24956773-G-C
gnomAD v4: 8-24956773-G-C
MyVariant Identifiers: chr8:g.24814287G>C (hg19) chr8:g.24956773G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956773G>C , CM000670.2:g.24956773G>C GRCh38
NC_000008.10:g.24814287G>C , CM000670.1:g.24814287G>C GRCh37
NC_000008.9:g.24870204G>C NCBI36
NG_008492.1:g.4845C>G , LRG_259:g.4845C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-258C>G ENSP00000482169.1:n.-258C>G
NM_006158.4:c.-258C>G , LRG_259t1:c.-258C>G NP_006149.2:n.-258C>G
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