Canonical Allele Identifier: CA385546107

Gene: CDK4

Linked Data

• ClinVar Variation Id: 2007809
• ClinVar RCV Id: RCV002833386
• dbSNP Id: rs2140386305
• MyVariant Identifiers: chr12:g.58144713G>C (hg19) ; chr12:g.57750930G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750930G>C , CM000674.2:g.57750930G>C	GRCh38
NC_000012.11:g.58144713G>C , CM000674.1:g.58144713G>C	GRCh37
NC_000012.10:g.56430980G>C	NCBI36
NG_007484.2:g.6452C>G , LRG_490:g.6452C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.515C>G MANE Select	ENSP00000257904.5:p.Thr172Arg
ENST00000257904.10:c.515C>G	ENSP00000257904.5:p.Thr172Arg
ENST00000312990.10:c.265-259C>G	ENSP00000316889.6:n.265-259C>G
ENST00000546489.5:c.293C>G	ENSP00000447779.1:p.Thr98Arg
ENST00000547281.5:c.293C>G	ENSP00000447274.1:p.Thr98Arg
ENST00000549606.5:c.-158+1245C>G	ENSP00000447005.1:n.-158+1245C>G
ENST00000550419.5:c.515C>G	ENSP00000448098.1:p.Thr172Arg
ENST00000551706.1:n.881C>G
ENST00000551800.5:c.293C>G	ENSP00000449391.1:p.Thr98Arg
ENST00000551888.5:n.443-259C>G
ENST00000552254.5:c.515C>G	ENSP00000449179.1:p.Thr172Arg
ENST00000553237.5:c.*154C>G	ENSP00000448885.1:n.*154C>G
NM_000075.3:c.515C>G	NP_000066.1:p.Thr172Arg
NM_000075.4:c.515C>G MANE Select	NP_000066.1:p.Thr172Arg