Canonical Allele Identifier: CA129284

Gene: CDT1

Linked Data

• ClinVar Variation Id: 30502
• ClinVar RCV Id: RCV000023459 ; RCV001596941
• dbSNP Id: rs200652608
• ExAC: 16:88873815 G / A
• gnomAD v2: 16-88873815-G-A
• gnomAD v3: 16-88807407-G-A
• gnomAD v4: 16-88807407-G-A
• COSMIC: COSM974774
• MyVariant Identifiers: chr16:g.88873815G>A (hg19) ; chr16:g.88807407G>A (hg38)
• PubMed: PMID:11477602 ; PMID:21358631

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88807407G>A , CM000678.2:g.88807407G>A	GRCh38
NC_000016.9:g.88873815G>A , CM000678.1:g.88873815G>A	GRCh37
NC_000016.8:g.87401316G>A	NCBI36
NG_028266.1:g.8630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301019.9:c.1402G>A MANE Select	ENSP00000301019.4:p.Glu468Lys
ENST00000301019.8:c.1402G>A	ENSP00000301019.4:p.Glu468Lys
NM_030928.3:c.1402G>A	NP_112190.2:p.Glu468Lys
NM_030928.4:c.1402G>A MANE Select	NP_112190.2:p.Glu468Lys