Canonical Allele Identifier: CA385545677

Gene: CDK4

Linked Data

• ClinVar Variation Id: 1462772
• ClinVar RCV Id: RCV001968637
• dbSNP Id: rs1060501929
• MyVariant Identifiers: chr12:g.58144472A>C (hg19) ; chr12:g.57750689A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750689A>C , CM000674.2:g.57750689A>C	GRCh38
NC_000012.11:g.58144472A>C , CM000674.1:g.58144472A>C	GRCh37
NC_000012.10:g.56430739A>C	NCBI36
NG_007484.2:g.6693T>G , LRG_490:g.6693T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.599T>G MANE Select	ENSP00000257904.5:p.Val200Gly
ENST00000257904.10:c.599T>G	ENSP00000257904.5:p.Val200Gly
ENST00000312990.10:c.265-18T>G	ENSP00000316889.6:n.265-18T>G
ENST00000546489.5:c.377T>G	ENSP00000447779.1:p.Val126Gly
ENST00000547281.5:c.377T>G	ENSP00000447274.1:p.Val126Gly
ENST00000549606.5:c.-157-1185T>G	ENSP00000447005.1:n.-157-1185T>G
ENST00000550419.5:c.523-126T>G	ENSP00000448098.1:n.523-126T>G
ENST00000551800.5:c.377T>G	ENSP00000449391.1:p.Val126Gly
ENST00000551888.5:n.443-18T>G
ENST00000552254.5:c.599T>G	ENSP00000449179.1:p.Val200Gly
ENST00000553237.5:c.*238T>G	ENSP00000448885.1:n.*238T>G
NM_000075.3:c.599T>G	NP_000066.1:p.Val200Gly
NM_000075.4:c.599T>G MANE Select	NP_000066.1:p.Val200Gly