Canonical Allele Identifier: CA6657880

Gene: CDK4

Linked Data

• ClinVar Variation Id: 439046
• ClinVar RCV Id: RCV000506470 ; RCV000568365 ; RCV001049238 ; RCV001778982 ; RCV003419876
• dbSNP Id: rs760719270
• ExAC: 12:58145346 C / T
• gnomAD v2: 12-58145346-C-T
• gnomAD v3: 12-57751563-C-T
• gnomAD v4: 12-57751563-C-T
• MyVariant Identifiers: chr12:g.58145346C>T (hg19) ; chr12:g.57751563C>T (hg38)
• PubMed: PMID:10398427 ; PMID:11828258 ; PMID:19888216 ; PMID:22932448 ; PMID:24162924 ; PMID:25416956 ; PMID:25980754

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57751563C>T , CM000674.2:g.57751563C>T	GRCh38
NC_000012.11:g.58145346C>T , CM000674.1:g.58145346C>T	GRCh37
NC_000012.10:g.56431613C>T	NCBI36
NG_007484.2:g.5819G>A , LRG_490:g.5819G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.155G>A MANE Select	ENSP00000257904.5:p.Ser52Asn
ENST00000257904.10:c.155G>A	ENSP00000257904.5:p.Ser52Asn
ENST00000312990.10:c.155G>A	ENSP00000316889.6:p.Ser52Asn
ENST00000546489.5:c.-4-221G>A	ENSP00000447779.1:n.-4-221G>A
ENST00000547281.5:c.-68G>A	ENSP00000447274.1:n.-68G>A
ENST00000549606.5:c.-158+612G>A	ENSP00000447005.1:n.-158+612G>A
ENST00000550419.5:c.155G>A	ENSP00000448098.1:p.Ser52Asn
ENST00000551706.1:n.364G>A
ENST00000551800.5:c.-68G>A	ENSP00000449391.1:n.-68G>A
ENST00000551888.5:n.333G>A
ENST00000552254.5:c.155G>A	ENSP00000449179.1:p.Ser52Asn
ENST00000552388.1:c.155G>A	ENSP00000448963.1:p.Ser52Asn
ENST00000552862.1:c.155G>A	ENSP00000446763.1:p.Ser52Asn
ENST00000553237.5:c.155G>A	ENSP00000448885.1:p.Ser52Asn
NM_000075.3:c.155G>A	NP_000066.1:p.Ser52Asn
NM_000075.4:c.155G>A MANE Select	NP_000066.1:p.Ser52Asn