Canonical Allele Identifier: CA174062557
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs73546950
gnomAD v2: 8-24814340-A-G
gnomAD v3: 8-24956826-A-G
gnomAD v4: 8-24956826-A-G
MyVariant Identifiers: chr8:g.24814340A>G (hg19) chr8:g.24956826A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956826A>G , CM000670.2:g.24956826A>G GRCh38
NC_000008.10:g.24814340A>G , CM000670.1:g.24814340A>G GRCh37
NC_000008.9:g.24870257A>G NCBI36
NG_008492.1:g.4792T>C , LRG_259:g.4792T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-311T>C ENSP00000482169.1:n.-311T>C
NM_006158.4:c.-311T>C , LRG_259t1:c.-311T>C NP_006149.2:n.-311T>C
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