Canonical Allele Identifier: CA8663218
Gene: NOG HGNC NCBI

Linked Data

ClinVar Variation Id: 1960997
ClinVar RCV Id: RCV002706757
dbSNP Id: rs372604336
ExAC: 17:54672140 G / T
gnomAD v2: 17-54672140-G-T
gnomAD v3: 17-56594779-G-T
gnomAD v4: 17-56594779-G-T
MyVariant Identifiers: chr17:g.54672140G>T (hg19) chr17:g.56594779G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594779G>T , CM000679.2:g.56594779G>T GRCh38
NC_000017.10:g.54672140G>T , CM000679.1:g.54672140G>T GRCh37
NC_000017.9:g.52027139G>T NCBI36
NG_011958.1:g.6081G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000332822.6:c.556G>T MANE Select ENSP00000328181.4:p.Val186Leu
ENST00000332822.4:c.556G>T ENSP00000328181.4:p.Val186Leu
NM_005450.4:c.556G>T NP_005441.1:p.Val186Leu
NM_005450.6:c.556G>T MANE Select NP_005441.1:p.Val186Leu
Search 100 bp 5'
Search 100 bp 3'