Canonical Allele Identifier: CA399966511

Gene: NOG

Linked Data

• ClinVar Variation Id: 2795160
• ClinVar RCV Id: RCV003675271
• gnomAD v4: 17-56594744-A-G
• MyVariant Identifiers: chr17:g.54672105A>G (hg19) ; chr17:g.56594744A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56594744A>G , CM000679.2:g.56594744A>G	GRCh38
NC_000017.10:g.54672105A>G , CM000679.1:g.54672105A>G	GRCh37
NC_000017.9:g.52027104A>G	NCBI36
NG_011958.1:g.6046A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332822.6:c.521A>G MANE Select	ENSP00000328181.4:p.Lys174Arg
ENST00000332822.4:c.521A>G	ENSP00000328181.4:p.Lys174Arg
NM_005450.4:c.521A>G	NP_005441.1:p.Lys174Arg
NM_005450.6:c.521A>G MANE Select	NP_005441.1:p.Lys174Arg