Canonical Allele Identifier: CA480301304

Gene: CDK4

Linked Data

• ClinVar Variation Id: 1130534
• ClinVar RCV Id: RCV001464101
• dbSNP Id: rs2140385820
• MyVariant Identifiers: chr12:g.58144519T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750736T>C , CM000674.2:g.57750736T>C	GRCh38
NC_000012.11:g.58144519T>C , CM000674.1:g.58144519T>C	GRCh37
NC_000012.10:g.56430786T>C	NCBI36
NG_007484.2:g.6646A>G , LRG_490:g.6646A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.552A>G MANE Select	ENSP00000257904.5:p.Glu184=
ENST00000257904.10:c.552A>G	ENSP00000257904.5:p.Glu184=
ENST00000312990.10:c.265-65A>G	ENSP00000316889.6:n.265-65A>G
ENST00000546489.5:c.330A>G	ENSP00000447779.1:p.Glu110=
ENST00000547281.5:c.330A>G	ENSP00000447274.1:p.Glu110=
ENST00000549606.5:c.-157-1232A>G	ENSP00000447005.1:n.-157-1232A>G
ENST00000550419.5:c.523-173A>G	ENSP00000448098.1:n.523-173A>G
ENST00000551800.5:c.330A>G	ENSP00000449391.1:p.Glu110=
ENST00000551888.5:n.443-65A>G
ENST00000552254.5:c.552A>G	ENSP00000449179.1:p.Glu184=
ENST00000553237.5:c.*191A>G	ENSP00000448885.1:n.*191A>G
NM_000075.3:c.552A>G	NP_000066.1:p.Glu184=
NM_000075.4:c.552A>G MANE Select	NP_000066.1:p.Glu184=