Canonical Allele Identifier: CA460019934
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24810162A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952649A>C , CM000670.2:g.24952649A>C GRCh38
NC_000008.10:g.24810162A>C , CM000670.1:g.24810162A>C GRCh37
NC_000008.9:g.24866079A>C NCBI36
NG_008492.1:g.8969T>G , LRG_259:g.8969T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.*161T>G MANE Select ENSP00000482169.2:n.*161T>G
ENST00000610854.1:c.*161T>G ENSP00000482169.1:n.*161T>G
ENST00000619417.1:c.*658T>G ENSP00000483690.1:n.*658T>G
NM_006158.4:c.*161T>G , LRG_259t1:c.*161T>G NP_006149.2:n.*161T>G
NM_006158.5:c.*161T>G MANE Select NP_006149.2:n.*161T>G