Canonical Allele Identifier: CA480301290

Gene: CDK4

Linked Data

• ClinVar Variation Id: 1748303
• ClinVar RCV Id: RCV002351993
• dbSNP Id: rs2140385808
• MyVariant Identifiers: chr12:g.58144516A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750733A>G , CM000674.2:g.57750733A>G	GRCh38
NC_000012.11:g.58144516A>G , CM000674.1:g.58144516A>G	GRCh37
NC_000012.10:g.56430783A>G	NCBI36
NG_007484.2:g.6649T>C , LRG_490:g.6649T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.555T>C MANE Select	ENSP00000257904.5:p.Val185=
ENST00000257904.10:c.555T>C	ENSP00000257904.5:p.Val185=
ENST00000312990.10:c.265-62T>C	ENSP00000316889.6:n.265-62T>C
ENST00000546489.5:c.333T>C	ENSP00000447779.1:p.Val111=
ENST00000547281.5:c.333T>C	ENSP00000447274.1:p.Val111=
ENST00000549606.5:c.-157-1229T>C	ENSP00000447005.1:n.-157-1229T>C
ENST00000550419.5:c.523-170T>C	ENSP00000448098.1:n.523-170T>C
ENST00000551800.5:c.333T>C	ENSP00000449391.1:p.Val111=
ENST00000551888.5:n.443-62T>C
ENST00000552254.5:c.555T>C	ENSP00000449179.1:p.Val185=
ENST00000553237.5:c.*194T>C	ENSP00000448885.1:n.*194T>C
NM_000075.3:c.555T>C	NP_000066.1:p.Val185=
NM_000075.4:c.555T>C MANE Select	NP_000066.1:p.Val185=