Canonical Allele Identifier: CA480301261

Gene: CDK4

Linked Data

• ClinVar Variation Id: 1748679
• ClinVar RCV Id: RCV002345008
• gnomAD v4: 12-57750727-C-T
• MyVariant Identifiers: chr12:g.58144510C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750727C>T , CM000674.2:g.57750727C>T	GRCh38
NC_000012.11:g.58144510C>T , CM000674.1:g.58144510C>T	GRCh37
NC_000012.10:g.56430777C>T	NCBI36
NG_007484.2:g.6655G>A , LRG_490:g.6655G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.561G>A MANE Select	ENSP00000257904.5:p.Leu187=
ENST00000257904.10:c.561G>A	ENSP00000257904.5:p.Leu187=
ENST00000312990.10:c.265-56G>A	ENSP00000316889.6:n.265-56G>A
ENST00000546489.5:c.339G>A	ENSP00000447779.1:p.Leu113=
ENST00000547281.5:c.339G>A	ENSP00000447274.1:p.Leu113=
ENST00000549606.5:c.-157-1223G>A	ENSP00000447005.1:n.-157-1223G>A
ENST00000550419.5:c.523-164G>A	ENSP00000448098.1:n.523-164G>A
ENST00000551800.5:c.339G>A	ENSP00000449391.1:p.Leu113=
ENST00000551888.5:n.443-56G>A
ENST00000552254.5:c.561G>A	ENSP00000449179.1:p.Leu187=
ENST00000553237.5:c.*200G>A	ENSP00000448885.1:n.*200G>A
NM_000075.3:c.561G>A	NP_000066.1:p.Leu187=
NM_000075.4:c.561G>A MANE Select	NP_000066.1:p.Leu187=