Canonical Allele Identifier: CA460019331
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1244841678
gnomAD v3: 8-24952445-A-G
gnomAD v4: 8-24952445-A-G
MyVariant Identifiers: chr8:g.24809958A>G (hg19) chr8:g.24952445A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952445A>G , CM000670.2:g.24952445A>G GRCh38
NC_000008.10:g.24809958A>G , CM000670.1:g.24809958A>G GRCh37
NC_000008.9:g.24865875A>G NCBI36
NG_008492.1:g.9173T>C , LRG_259:g.9173T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.*365T>C MANE Select ENSP00000482169.2:n.*365T>C
ENST00000610854.1:c.*365T>C ENSP00000482169.1:n.*365T>C
ENST00000619417.1:c.*862T>C ENSP00000483690.1:n.*862T>C
NM_006158.4:c.*365T>C , LRG_259t1:c.*365T>C NP_006149.2:n.*365T>C
NM_006158.5:c.*365T>C MANE Select NP_006149.2:n.*365T>C
Search 100 bp 5'
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