Canonical Allele Identifier: CA460019659
Gene: NEFL HGNC NCBI

Linked Data

gnomAD v4: 8-24952553-G-C
MyVariant Identifiers: chr8:g.24810066G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952553G>C , CM000670.2:g.24952553G>C GRCh38
NC_000008.10:g.24810066G>C , CM000670.1:g.24810066G>C GRCh37
NC_000008.9:g.24865983G>C NCBI36
NG_008492.1:g.9065C>G , LRG_259:g.9065C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.*257C>G MANE Select ENSP00000482169.2:n.*257C>G
ENST00000610854.1:c.*257C>G ENSP00000482169.1:n.*257C>G
ENST00000619417.1:c.*754C>G ENSP00000483690.1:n.*754C>G
NM_006158.4:c.*257C>G , LRG_259t1:c.*257C>G NP_006149.2:n.*257C>G
NM_006158.5:c.*257C>G MANE Select NP_006149.2:n.*257C>G
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