Canonical Allele Identifier: CA174062340
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs547550534
gnomAD v2: 8-24814150-C-G
gnomAD v3: 8-24956636-C-G
gnomAD v4: 8-24956636-C-G
MyVariant Identifiers: chr8:g.24814150C>G (hg19) chr8:g.24956636C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956636C>G , CM000670.2:g.24956636C>G GRCh38
NC_000008.10:g.24814150C>G , CM000670.1:g.24814150C>G GRCh37
NC_000008.9:g.24870067C>G NCBI36
NG_008492.1:g.4982G>C , LRG_259:g.4982G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-121G>C ENSP00000482169.1:n.-121G>C
ENST00000615973.1:n.86G>C
NM_006158.4:c.-121G>C , LRG_259t1:c.-121G>C NP_006149.2:n.-121G>C
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