Canonical Allele Identifier: CA460020976
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1402249334
gnomAD v2: 8-24814051-G-T
gnomAD v4: 8-24956537-G-T
MyVariant Identifiers: chr8:g.24814051G>T (hg19) chr8:g.24956537G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956537G>T , CM000670.2:g.24956537G>T GRCh38
NC_000008.10:g.24814051G>T , CM000670.1:g.24814051G>T GRCh37
NC_000008.9:g.24869968G>T NCBI36
NG_008492.1:g.5081C>A , LRG_259:g.5081C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.-22C>A MANE Select ENSP00000482169.2:n.-22C>A
ENST00000610854.1:c.-22C>A ENSP00000482169.1:n.-22C>A
ENST00000615973.1:n.185C>A
ENST00000619417.1:c.-22C>A ENSP00000483690.1:n.-22C>A
NM_006158.4:c.-22C>A , LRG_259t1:c.-22C>A NP_006149.2:n.-22C>A
NM_006158.5:c.-22C>A MANE Select NP_006149.2:n.-22C>A
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