Canonical Allele Identifier: CA8663196
Gene: NOG HGNC NCBI

Linked Data

dbSNP Id: rs748751127
ExAC: 17:54671959 C / T
gnomAD v2: 17-54671959-C-T
gnomAD v4: 17-56594598-C-T
COSMIC: COSM5464114
MyVariant Identifiers: chr17:g.54671959C>T (hg19) chr17:g.56594598C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.375C>T MANE Select ENSP00000328181.4:p.Phe125=
ENST00000332822.4:c.375C>T ENSP00000328181.4:p.Phe125=
NM_005450.4:c.375C>T NP_005441.1:p.Phe125=
NM_005450.6:c.375C>T MANE Select NP_005441.1:p.Phe125=
Search 100 bp 5'
Search 100 bp 3'