Canonical Allele Identifier: CA460021564
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1803064432
gnomAD v3: 8-24956733-T-C
gnomAD v4: 8-24956733-T-C
MyVariant Identifiers: chr8:g.24814247T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956733T>C , CM000670.2:g.24956733T>C GRCh38
NC_000008.10:g.24814247T>C , CM000670.1:g.24814247T>C GRCh37
NC_000008.9:g.24870164T>C NCBI36
NG_008492.1:g.4885A>G , LRG_259:g.4885A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-218A>G ENSP00000482169.1:n.-218A>G
NM_006158.4:c.-218A>G , LRG_259t1:c.-218A>G NP_006149.2:n.-218A>G
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