Canonical Allele Identifier: CA460019672
Gene: NEFL HGNC NCBI

Linked Data

gnomAD v4: 8-24952557-C-T
MyVariant Identifiers: chr8:g.24810070C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952557C>T , CM000670.2:g.24952557C>T GRCh38
NC_000008.10:g.24810070C>T , CM000670.1:g.24810070C>T GRCh37
NC_000008.9:g.24865987C>T NCBI36
NG_008492.1:g.9061G>A , LRG_259:g.9061G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.*253G>A MANE Select ENSP00000482169.2:n.*253G>A
ENST00000610854.1:c.*253G>A ENSP00000482169.1:n.*253G>A
ENST00000619417.1:c.*750G>A ENSP00000483690.1:n.*750G>A
NM_006158.4:c.*253G>A , LRG_259t1:c.*253G>A NP_006149.2:n.*253G>A
NM_006158.5:c.*253G>A MANE Select NP_006149.2:n.*253G>A
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Search 100 bp 3'