Canonical Allele Identifier: CA385545877

Gene: CDK4

Linked Data

• ClinVar Variation Id: 949057
• ClinVar RCV Id: RCV001220436
• dbSNP Id: rs1955226839
• MyVariant Identifiers: chr12:g.58144511A>C (hg19) ; chr12:g.57750728A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750728A>C , CM000674.2:g.57750728A>C	GRCh38
NC_000012.11:g.58144511A>C , CM000674.1:g.58144511A>C	GRCh37
NC_000012.10:g.56430778A>C	NCBI36
NG_007484.2:g.6654T>G , LRG_490:g.6654T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.560T>G MANE Select	ENSP00000257904.5:p.Leu187Arg
ENST00000257904.10:c.560T>G	ENSP00000257904.5:p.Leu187Arg
ENST00000312990.10:c.265-57T>G	ENSP00000316889.6:n.265-57T>G
ENST00000546489.5:c.338T>G	ENSP00000447779.1:p.Leu113Arg
ENST00000547281.5:c.338T>G	ENSP00000447274.1:p.Leu113Arg
ENST00000549606.5:c.-157-1224T>G	ENSP00000447005.1:n.-157-1224T>G
ENST00000550419.5:c.523-165T>G	ENSP00000448098.1:n.523-165T>G
ENST00000551800.5:c.338T>G	ENSP00000449391.1:p.Leu113Arg
ENST00000551888.5:n.443-57T>G
ENST00000552254.5:c.560T>G	ENSP00000449179.1:p.Leu187Arg
ENST00000553237.5:c.*199T>G	ENSP00000448885.1:n.*199T>G
NM_000075.3:c.560T>G	NP_000066.1:p.Leu187Arg
NM_000075.4:c.560T>G MANE Select	NP_000066.1:p.Leu187Arg