Canonical Allele Identifier: CA10633363

Gene: CDK4

Linked Data

• ClinVar Variation Id: 309980
• ClinVar RCV Id: RCV000284511 ; RCV000461606 ; RCV002429262
• dbSNP Id: rs886049715
• gnomAD v4: 12-57751294-T-C
• MyVariant Identifiers: chr12:g.58145077T>C (hg19) ; chr12:g.57751294T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57751294T>C , CM000674.2:g.57751294T>C	GRCh38
NC_000012.11:g.58145077T>C , CM000674.1:g.58145077T>C	GRCh37
NC_000012.10:g.56431344T>C	NCBI36
NG_007484.2:g.6088A>G , LRG_490:g.6088A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.267A>G MANE Select	ENSP00000257904.5:p.Val89=
ENST00000257904.10:c.267A>G	ENSP00000257904.5:p.Val89=
ENST00000312990.10:c.264+3A>G	ENSP00000316889.6:n.264+3A>G
ENST00000546489.5:c.45A>G	ENSP00000447779.1:p.Val15=
ENST00000547281.5:c.45A>G	ENSP00000447274.1:p.Val15=
ENST00000549606.5:c.-158+881A>G	ENSP00000447005.1:n.-158+881A>G
ENST00000550419.5:c.267A>G	ENSP00000448098.1:p.Val89=
ENST00000551706.1:n.633A>G
ENST00000551800.5:c.45A>G	ENSP00000449391.1:p.Val15=
ENST00000551888.5:n.442+3A>G
ENST00000552254.5:c.267A>G	ENSP00000449179.1:p.Val89=
ENST00000552388.1:c.267A>G	ENSP00000448963.1:p.Val89=
ENST00000552862.1:c.267A>G	ENSP00000446763.1:p.Val89=
ENST00000553237.5:c.219-204A>G	ENSP00000448885.1:n.219-204A>G
NM_000075.3:c.267A>G	NP_000066.1:p.Val89=
NM_000075.4:c.267A>G MANE Select	NP_000066.1:p.Val89=