Canonical Allele Identifier: CA460021059
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1224715701
gnomAD v2: 8-24814077-A-G
gnomAD v3: 8-24956563-A-G
gnomAD v4: 8-24956563-A-G
MyVariant Identifiers: chr8:g.24814077A>G (hg19) chr8:g.24956563A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956563A>G , CM000670.2:g.24956563A>G GRCh38
NC_000008.10:g.24814077A>G , CM000670.1:g.24814077A>G GRCh37
NC_000008.9:g.24869994A>G NCBI36
NG_008492.1:g.5055T>C , LRG_259:g.5055T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.-48T>C MANE Select ENSP00000482169.2:n.-48T>C
ENST00000610854.1:c.-48T>C ENSP00000482169.1:n.-48T>C
ENST00000615973.1:n.159T>C
ENST00000619417.1:c.-48T>C ENSP00000483690.1:n.-48T>C
NM_006158.4:c.-48T>C , LRG_259t1:c.-48T>C NP_006149.2:n.-48T>C
NM_006158.5:c.-48T>C MANE Select NP_006149.2:n.-48T>C
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