Canonical Allele Identifier: CA4544984

Gene: NOBOX

Linked Data

• ClinVar Variation Id: 359159
• ClinVar RCV Id: RCV000303432 ; RCV000433477
• dbSNP Id: rs138463368
• ExAC: 7:144107255 A / G
• gnomAD v2: 7-144107255-A-G
• gnomAD v3: 7-144410162-A-G
• gnomAD v4: 7-144410162-A-G
• MyVariant Identifiers: chr7:g.144107255A>G (hg19) ; chr7:g.144410162A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.144410162A>G , CM000669.2:g.144410162A>G	GRCh38
NC_000007.13:g.144107255A>G , CM000669.1:g.144107255A>G	GRCh37
NC_000007.12:g.143738188A>G	NCBI36
NG_028979.1:g.5066T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467773.1:c.66T>C MANE Select	ENSP00000419457.1:p.Asp22=
ENST00000483238.5:c.66T>C	ENSP00000419565.1:p.Asp22=
NM_001080413.3:c.66T>C MANE Select	NP_001073882.3:p.Asp22=
XM_017011742.2:c.66T>C	XP_016867231.1:p.Asp22=