Canonical Allele Identifier: CA190439

Gene: CDK4

Linked Data

• ClinVar Variation Id: 184906
• ClinVar RCV Id: RCV000164246 ; RCV000530838 ; RCV000709231 ; RCV001567127
• dbSNP Id: rs780052789
• ExAC: 12:58144708 C / T
• gnomAD v2: 12-58144708-C-T
• gnomAD v3: 12-57750925-C-T
• gnomAD v4: 12-57750925-C-T
• COSMIC: COSM5980330
• MyVariant Identifiers: chr12:g.58144708C>T (hg19) ; chr12:g.57750925C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750925C>T , CM000674.2:g.57750925C>T	GRCh38
NC_000012.11:g.58144708C>T , CM000674.1:g.58144708C>T	GRCh37
NC_000012.10:g.56430975C>T	NCBI36
NG_007484.2:g.6457G>A , LRG_490:g.6457G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.520G>A MANE Select	ENSP00000257904.5:p.Val174Met
ENST00000257904.10:c.520G>A	ENSP00000257904.5:p.Val174Met
ENST00000312990.10:c.265-254G>A	ENSP00000316889.6:n.265-254G>A
ENST00000546489.5:c.298G>A	ENSP00000447779.1:p.Val100Met
ENST00000547281.5:c.298G>A	ENSP00000447274.1:p.Val100Met
ENST00000549606.5:c.-158+1250G>A	ENSP00000447005.1:n.-158+1250G>A
ENST00000550419.5:c.520G>A	ENSP00000448098.1:p.Val174Met
ENST00000551706.1:n.886G>A
ENST00000551800.5:c.298G>A	ENSP00000449391.1:p.Val100Met
ENST00000551888.5:n.443-254G>A
ENST00000552254.5:c.520G>A	ENSP00000449179.1:p.Val174Met
ENST00000553237.5:c.*159G>A	ENSP00000448885.1:n.*159G>A
NM_000075.3:c.520G>A	NP_000066.1:p.Val174Met
NM_000075.4:c.520G>A MANE Select	NP_000066.1:p.Val174Met