Canonical Allele Identifier: CA370624172
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1187609782
gnomAD v2: 8-24813974-A-C
gnomAD v4: 8-24956460-A-C
MyVariant Identifiers: chr8:g.24813974A>C (hg19) chr8:g.24956460A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956460A>C , CM000670.2:g.24956460A>C GRCh38
NC_000008.10:g.24813974A>C , CM000670.1:g.24813974A>C GRCh37
NC_000008.9:g.24869891A>C NCBI36
NG_008492.1:g.5158T>G , LRG_259:g.5158T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.56T>G MANE Select ENSP00000482169.2:p.Val19Gly
ENST00000610854.1:c.56T>G ENSP00000482169.1:p.Val19Gly
ENST00000615973.1:n.262T>G
ENST00000619417.1:c.56T>G ENSP00000483690.1:p.Val19Gly
NM_006158.4:c.56T>G , LRG_259t1:c.56T>G NP_006149.2:p.Val19Gly
NM_006158.5:c.56T>G MANE Select NP_006149.2:p.Val19Gly
Search 100 bp 5'
Search 100 bp 3'