Canonical Allele Identifier: CA370623963
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1482754724
gnomAD v2: 8-24813908-G-A
gnomAD v4: 8-24956394-G-A
MyVariant Identifiers: chr8:g.24813908G>A (hg19) chr8:g.24956394G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956394G>A , CM000670.2:g.24956394G>A GRCh38
NC_000008.10:g.24813908G>A , CM000670.1:g.24813908G>A GRCh37
NC_000008.9:g.24869825G>A NCBI36
NG_008492.1:g.5224C>T , LRG_259:g.5224C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.122C>T MANE Select ENSP00000482169.2:p.Ser41Phe
ENST00000610854.1:c.122C>T ENSP00000482169.1:p.Ser41Phe
ENST00000615973.1:n.328C>T
ENST00000619417.1:c.122C>T ENSP00000483690.1:p.Ser41Phe
NM_006158.4:c.122C>T , LRG_259t1:c.122C>T NP_006149.2:p.Ser41Phe
NM_006158.5:c.122C>T MANE Select NP_006149.2:p.Ser41Phe
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