Canonical Allele Identifier: CA399965952
Gene: NOG HGNC NCBI

Linked Data

dbSNP Id: rs748751127
gnomAD v3: 17-56594598-C-G
gnomAD v4: 17-56594598-C-G
MyVariant Identifiers: chr17:g.54671959C>G (hg19) chr17:g.56594598C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594598C>G , CM000679.2:g.56594598C>G GRCh38
NC_000017.10:g.54671959C>G , CM000679.1:g.54671959C>G GRCh37
NC_000017.9:g.52026958C>G NCBI36
NG_011958.1:g.5900C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000332822.6:c.375C>G MANE Select ENSP00000328181.4:p.Phe125Leu
ENST00000332822.4:c.375C>G ENSP00000328181.4:p.Phe125Leu
NM_005450.4:c.375C>G NP_005441.1:p.Phe125Leu
NM_005450.6:c.375C>G MANE Select NP_005441.1:p.Phe125Leu
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