Canonical Allele Identifier: CA480301075

Gene: CDK4

Linked Data

• ClinVar Variation Id: 1117640
• ClinVar RCV Id: RCV001446430
• dbSNP Id: rs2140385676
• MyVariant Identifiers: chr12:g.58144471A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750688A>C , CM000674.2:g.57750688A>C	GRCh38
NC_000012.11:g.58144471A>C , CM000674.1:g.58144471A>C	GRCh37
NC_000012.10:g.56430738A>C	NCBI36
NG_007484.2:g.6694T>G , LRG_490:g.6694T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.600T>G MANE Select	ENSP00000257904.5:p.Val200=
ENST00000257904.10:c.600T>G	ENSP00000257904.5:p.Val200=
ENST00000312990.10:c.265-17T>G	ENSP00000316889.6:n.265-17T>G
ENST00000546489.5:c.378T>G	ENSP00000447779.1:p.Val126=
ENST00000547281.5:c.378T>G	ENSP00000447274.1:p.Val126=
ENST00000549606.5:c.-157-1184T>G	ENSP00000447005.1:n.-157-1184T>G
ENST00000550419.5:c.523-125T>G	ENSP00000448098.1:n.523-125T>G
ENST00000551800.5:c.378T>G	ENSP00000449391.1:p.Val126=
ENST00000551888.5:n.443-17T>G
ENST00000552254.5:c.600T>G	ENSP00000449179.1:p.Val200=
ENST00000553237.5:c.*239T>G	ENSP00000448885.1:n.*239T>G
NM_000075.3:c.600T>G	NP_000066.1:p.Val200=
NM_000075.4:c.600T>G MANE Select	NP_000066.1:p.Val200=