Canonical Allele Identifier: CA174057531
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1035203466
gnomAD v4: 8-24952661-T-G
MyVariant Identifiers: chr8:g.24810174T>G (hg19) chr8:g.24952661T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952661T>G , CM000670.2:g.24952661T>G GRCh38
NC_000008.10:g.24810174T>G , CM000670.1:g.24810174T>G GRCh37
NC_000008.9:g.24866091T>G NCBI36
NG_008492.1:g.8957A>C , LRG_259:g.8957A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.*149A>C MANE Select ENSP00000482169.2:n.*149A>C
ENST00000610854.1:c.*149A>C ENSP00000482169.1:n.*149A>C
ENST00000619417.1:c.*646A>C ENSP00000483690.1:n.*646A>C
NM_006158.4:c.*149A>C , LRG_259t1:c.*149A>C NP_006149.2:n.*149A>C
NM_006158.5:c.*149A>C MANE Select NP_006149.2:n.*149A>C
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