Canonical Allele Identifier: CA4681560
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs746907088
ExAC: 8:24813977 T / G
gnomAD v2: 8-24813977-T-G
gnomAD v4: 8-24956463-T-G
MyVariant Identifiers: chr8:g.24813977T>G (hg19) chr8:g.24956463T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956463T>G , CM000670.2:g.24956463T>G GRCh38
NC_000008.10:g.24813977T>G , CM000670.1:g.24813977T>G GRCh37
NC_000008.9:g.24869894T>G NCBI36
NG_008492.1:g.5155A>C , LRG_259:g.5155A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.53A>C MANE Select ENSP00000482169.2:p.Tyr18Ser
ENST00000610854.1:c.53A>C ENSP00000482169.1:p.Tyr18Ser
ENST00000615973.1:n.259A>C
ENST00000619417.1:c.53A>C ENSP00000483690.1:p.Tyr18Ser
NM_006158.4:c.53A>C , LRG_259t1:c.53A>C NP_006149.2:p.Tyr18Ser
NM_006158.5:c.53A>C MANE Select NP_006149.2:p.Tyr18Ser
Search 100 bp 5'
Search 100 bp 3'