Canonical Allele Identifier: CA385546277

Gene: CDK4

Linked Data

• ClinVar Variation Id: 1722150
• ClinVar RCV Id: RCV002295186
• dbSNP Id: rs796860515
• MyVariant Identifiers: chr12:g.58144747G>C (hg19) ; chr12:g.57750964G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750964G>C , CM000674.2:g.57750964G>C	GRCh38
NC_000012.11:g.58144747G>C , CM000674.1:g.58144747G>C	GRCh37
NC_000012.10:g.56431014G>C	NCBI36
NG_007484.2:g.6418C>G , LRG_490:g.6418C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.481C>G MANE Select	ENSP00000257904.5:p.Leu161Val
ENST00000257904.10:c.481C>G	ENSP00000257904.5:p.Leu161Val
ENST00000312990.10:c.265-293C>G	ENSP00000316889.6:n.265-293C>G
ENST00000546489.5:c.259C>G	ENSP00000447779.1:p.Leu87Val
ENST00000547281.5:c.259C>G	ENSP00000447274.1:p.Leu87Val
ENST00000549606.5:c.-158+1211C>G	ENSP00000447005.1:n.-158+1211C>G
ENST00000550419.5:c.481C>G	ENSP00000448098.1:p.Leu161Val
ENST00000551706.1:n.847C>G
ENST00000551800.5:c.259C>G	ENSP00000449391.1:p.Leu87Val
ENST00000551888.5:n.443-293C>G
ENST00000552254.5:c.481C>G	ENSP00000449179.1:p.Leu161Val
ENST00000552388.1:c.481C>G	ENSP00000448963.1:p.Leu161Val
ENST00000553237.5:c.*120C>G	ENSP00000448885.1:n.*120C>G
NM_000075.3:c.481C>G	NP_000066.1:p.Leu161Val
NM_000075.4:c.481C>G MANE Select	NP_000066.1:p.Leu161Val