Canonical Allele Identifier: CA370623939
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1206716066
gnomAD v2: 8-24813902-T-C
gnomAD v4: 8-24956388-T-C
MyVariant Identifiers: chr8:g.24813902T>C (hg19) chr8:g.24956388T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956388T>C , CM000670.2:g.24956388T>C GRCh38
NC_000008.10:g.24813902T>C , CM000670.1:g.24813902T>C GRCh37
NC_000008.9:g.24869819T>C NCBI36
NG_008492.1:g.5230A>G , LRG_259:g.5230A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.128A>G MANE Select ENSP00000482169.2:p.Tyr43Cys
ENST00000610854.1:c.128A>G ENSP00000482169.1:p.Tyr43Cys
ENST00000615973.1:n.334A>G
ENST00000619417.1:c.128A>G ENSP00000483690.1:p.Tyr43Cys
NM_006158.4:c.128A>G , LRG_259t1:c.128A>G NP_006149.2:p.Tyr43Cys
NM_006158.5:c.128A>G MANE Select NP_006149.2:p.Tyr43Cys
Search 100 bp 5'
Search 100 bp 3'