Canonical Allele Identifier: CA370622623
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1253375114
gnomAD v2: 8-24813659-A-G
gnomAD v3: 8-24956145-A-G
gnomAD v4: 8-24956145-A-G
MyVariant Identifiers: chr8:g.24813659A>G (hg19) chr8:g.24956145A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956145A>G , CM000670.2:g.24956145A>G GRCh38
NC_000008.10:g.24813659A>G , CM000670.1:g.24813659A>G GRCh37
NC_000008.9:g.24869576A>G NCBI36
NG_008492.1:g.5473T>C , LRG_259:g.5473T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.371T>C MANE Select ENSP00000482169.2:p.Val124Ala
ENST00000610854.1:c.371T>C ENSP00000482169.1:p.Val124Ala
ENST00000615973.1:n.577T>C
ENST00000619417.1:c.371T>C ENSP00000483690.1:p.Val124Ala
NM_006158.4:c.371T>C , LRG_259t1:c.371T>C NP_006149.2:p.Val124Ala
NM_006158.5:c.371T>C MANE Select NP_006149.2:p.Val124Ala
Search 100 bp 5'
Search 100 bp 3'