Canonical Allele Identifier: CA460021127
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1803061311
MyVariant Identifiers: chr8:g.24814095A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956581A>C , CM000670.2:g.24956581A>C GRCh38
NC_000008.10:g.24814095A>C , CM000670.1:g.24814095A>C GRCh37
NC_000008.9:g.24870012A>C NCBI36
NG_008492.1:g.5037T>G , LRG_259:g.5037T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.-66T>G MANE Select ENSP00000482169.2:n.-66T>G
ENST00000610854.1:c.-66T>G ENSP00000482169.1:n.-66T>G
ENST00000615973.1:n.141T>G
ENST00000619417.1:c.-66T>G ENSP00000483690.1:n.-66T>G
NM_006158.4:c.-66T>G , LRG_259t1:c.-66T>G NP_006149.2:n.-66T>G
NM_006158.5:c.-66T>G MANE Select NP_006149.2:n.-66T>G
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