Canonical Allele Identifier: CA385546012

Gene: CDK4

Linked Data

• ClinVar Variation Id: 1357735
• ClinVar RCV Id: RCV001878443
• dbSNP Id: rs2140385892
• MyVariant Identifiers: chr12:g.58144544A>G (hg19) ; chr12:g.57750761A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750761A>G , CM000674.2:g.57750761A>G	GRCh38
NC_000012.11:g.58144544A>G , CM000674.1:g.58144544A>G	GRCh37
NC_000012.10:g.56430811A>G	NCBI36
NG_007484.2:g.6621T>C , LRG_490:g.6621T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.527T>C MANE Select	ENSP00000257904.5:p.Val176Ala
ENST00000257904.10:c.527T>C	ENSP00000257904.5:p.Val176Ala
ENST00000312990.10:c.265-90T>C	ENSP00000316889.6:n.265-90T>C
ENST00000546489.5:c.305T>C	ENSP00000447779.1:p.Val102Ala
ENST00000547281.5:c.305T>C	ENSP00000447274.1:p.Val102Ala
ENST00000549606.5:c.-157-1257T>C	ENSP00000447005.1:n.-157-1257T>C
ENST00000550419.5:c.522+162T>C	ENSP00000448098.1:n.522+162T>C
ENST00000551800.5:c.305T>C	ENSP00000449391.1:p.Val102Ala
ENST00000551888.5:n.443-90T>C
ENST00000552254.5:c.527T>C	ENSP00000449179.1:p.Val176Ala
ENST00000553237.5:c.*166T>C	ENSP00000448885.1:n.*166T>C
NM_000075.3:c.527T>C	NP_000066.1:p.Val176Ala
NM_000075.4:c.527T>C MANE Select	NP_000066.1:p.Val176Ala