Canonical Allele Identifier: CA460021358
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1191334751
gnomAD v4: 8-24956660-G-C
MyVariant Identifiers: chr8:g.24814174G>C (hg19) chr8:g.24956660G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956660G>C , CM000670.2:g.24956660G>C GRCh38
NC_000008.10:g.24814174G>C , CM000670.1:g.24814174G>C GRCh37
NC_000008.9:g.24870091G>C NCBI36
NG_008492.1:g.4958C>G , LRG_259:g.4958C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-145C>G ENSP00000482169.1:n.-145C>G
ENST00000615973.1:n.62C>G
NM_006158.4:c.-145C>G , LRG_259t1:c.-145C>G NP_006149.2:n.-145C>G
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