Canonical Allele Identifier: CA370624197
Gene: NEFL HGNC NCBI

Linked Data

gnomAD v4: 8-24956467-G-T
MyVariant Identifiers: chr8:g.24813981G>T (hg19) chr8:g.24956467G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956467G>T , CM000670.2:g.24956467G>T GRCh38
NC_000008.10:g.24813981G>T , CM000670.1:g.24813981G>T GRCh37
NC_000008.9:g.24869898G>T NCBI36
NG_008492.1:g.5151C>A , LRG_259:g.5151C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.49C>A MANE Select ENSP00000482169.2:p.Arg17Ser
ENST00000610854.1:c.49C>A ENSP00000482169.1:p.Arg17Ser
ENST00000615973.1:n.255C>A
ENST00000619417.1:c.49C>A ENSP00000483690.1:p.Arg17Ser
NM_006158.4:c.49C>A , LRG_259t1:c.49C>A NP_006149.2:p.Arg17Ser
NM_006158.5:c.49C>A MANE Select NP_006149.2:p.Arg17Ser
Search 100 bp 5'
Search 100 bp 3'