Canonical Allele Identifier: CA399966115
Gene: NOG HGNC NCBI

Linked Data

ClinVar Variation Id: 2859600
ClinVar RCV Id: RCV003701922
dbSNP Id: rs1190751345
gnomAD v4: 17-56594660-A-T
MyVariant Identifiers: chr17:g.54672021A>T (hg19) chr17:g.56594660A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594660A>T , CM000679.2:g.56594660A>T GRCh38
NC_000017.10:g.54672021A>T , CM000679.1:g.54672021A>T GRCh37
NC_000017.9:g.52027020A>T NCBI36
NG_011958.1:g.5962A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.437A>T MANE Select ENSP00000328181.4:p.Gln146Leu
ENST00000332822.4:c.437A>T ENSP00000328181.4:p.Gln146Leu
NM_005450.4:c.437A>T NP_005441.1:p.Gln146Leu
NM_005450.6:c.437A>T MANE Select NP_005441.1:p.Gln146Leu
Search 100 bp 5'
Search 100 bp 3'