Canonical Allele Identifier: CA180520

Gene: NOBOX

Linked Data

• ClinVar Variation Id: 167875
• ClinVar RCV Id: RCV000154191 ; RCV000615871 ; RCV000965062 ; RCV000987991
• dbSNP Id: rs7800847
• ExAC: 7:144098634 G / A
• gnomAD v2: 7-144098634-G-A
• gnomAD v3: 7-144401541-G-A
• gnomAD v4: 7-144401541-G-A
• MyVariant Identifiers: chr7:g.144098634G>A (hg19) ; chr7:g.144401541G>A (hg38)
• PubMed: PMID:21837770 ; PMID:24103315 ; PMID:25514101 ; PMID:25960166 ; PMID:26848058

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.144401541G>A , CM000669.2:g.144401541G>A	GRCh38
NC_000007.13:g.144098634G>A , CM000669.1:g.144098634G>A	GRCh37
NC_000007.12:g.143729567G>A	NCBI36
NG_028979.1:g.13687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643164.1:c.38-1229C>T	ENSP00000495343.1:n.38-1229C>T
ENST00000645489.1:c.94C>T	ENSP00000496732.1:p.Arg32Trp
ENST00000467773.1:c.349C>T MANE Select	ENSP00000419457.1:p.Arg117Trp
ENST00000483238.5:c.349C>T	ENSP00000419565.1:p.Arg117Trp
NM_001080413.3:c.349C>T MANE Select	NP_001073882.3:p.Arg117Trp
XM_011515791.1:c.94C>T	XP_011514093.1:p.Arg32Trp
XM_017011742.2:c.349C>T	XP_016867231.1:p.Arg117Trp