Canonical Allele Identifier: CA385545858

Gene: CDK4

Linked Data

• ClinVar Variation Id: 2131312
• ClinVar RCV Id: RCV003048143
• dbSNP Id: rs1955226753
• MyVariant Identifiers: chr12:g.58144505G>T (hg19) ; chr12:g.57750722G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750722G>T , CM000674.2:g.57750722G>T	GRCh38
NC_000012.11:g.58144505G>T , CM000674.1:g.58144505G>T	GRCh37
NC_000012.10:g.56430772G>T	NCBI36
NG_007484.2:g.6660C>A , LRG_490:g.6660C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.566C>A MANE Select	ENSP00000257904.5:p.Ser189Tyr
ENST00000257904.10:c.566C>A	ENSP00000257904.5:p.Ser189Tyr
ENST00000312990.10:c.265-51C>A	ENSP00000316889.6:n.265-51C>A
ENST00000546489.5:c.344C>A	ENSP00000447779.1:p.Ser115Tyr
ENST00000547281.5:c.344C>A	ENSP00000447274.1:p.Ser115Tyr
ENST00000549606.5:c.-157-1218C>A	ENSP00000447005.1:n.-157-1218C>A
ENST00000550419.5:c.523-159C>A	ENSP00000448098.1:n.523-159C>A
ENST00000551800.5:c.344C>A	ENSP00000449391.1:p.Ser115Tyr
ENST00000551888.5:n.443-51C>A
ENST00000552254.5:c.566C>A	ENSP00000449179.1:p.Ser189Tyr
ENST00000553237.5:c.*205C>A	ENSP00000448885.1:n.*205C>A
NM_000075.3:c.566C>A	NP_000066.1:p.Ser189Tyr
NM_000075.4:c.566C>A MANE Select	NP_000066.1:p.Ser189Tyr