Canonical Allele Identifier: CA332395

Gene: CDK4

Linked Data

• ClinVar Variation Id: 135824
• ClinVar RCV Id: RCV000564591 ; RCV000589608 ; RCV001085786
• dbSNP Id: rs587780667
• ExAC: 12:58144552 A / T
• gnomAD v2: 12-58144552-A-T
• gnomAD v3: 12-57750769-A-T
• gnomAD v4: 12-57750769-A-T
• MyVariant Identifiers: chr12:g.58144552A>T (hg19) ; chr12:g.57750769A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750769A>T , CM000674.2:g.57750769A>T	GRCh38
NC_000012.11:g.58144552A>T , CM000674.1:g.58144552A>T	GRCh37
NC_000012.10:g.56430819A>T	NCBI36
NG_007484.2:g.6613T>A , LRG_490:g.6613T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.523-4T>A MANE Select	ENSP00000257904.5:n.523-4T>A
ENST00000257904.10:c.523-4T>A	ENSP00000257904.5:n.523-4T>A
ENST00000312990.10:c.265-98T>A	ENSP00000316889.6:n.265-98T>A
ENST00000546489.5:c.301-4T>A	ENSP00000447779.1:n.301-4T>A
ENST00000547281.5:c.301-4T>A	ENSP00000447274.1:n.301-4T>A
ENST00000549606.5:c.-157-1265T>A	ENSP00000447005.1:n.-157-1265T>A
ENST00000550419.5:c.522+154T>A	ENSP00000448098.1:n.522+154T>A
ENST00000551800.5:c.301-4T>A	ENSP00000449391.1:n.301-4T>A
ENST00000551888.5:n.443-98T>A
ENST00000552254.5:c.523-4T>A	ENSP00000449179.1:n.523-4T>A
ENST00000553237.5:c.*162-4T>A	ENSP00000448885.1:n.*162-4T>A
NM_000075.3:c.523-4T>A	NP_000066.1:n.523-4T>A
NM_000075.4:c.523-4T>A MANE Select	NP_000066.1:n.523-4T>A