Canonical Allele Identifier: CA480301213

Gene: CDK4

Linked Data

• ClinVar Variation Id: 1749199
• ClinVar RCV Id: RCV002347599
• dbSNP Id: rs1428628208
• gnomAD v2: 12-58144501-T-A
• gnomAD v4: 12-57750718-T-A
• MyVariant Identifiers: chr12:g.58144501T>A (hg19) ; chr12:g.57750718T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750718T>A , CM000674.2:g.57750718T>A	GRCh38
NC_000012.11:g.58144501T>A , CM000674.1:g.58144501T>A	GRCh37
NC_000012.10:g.56430768T>A	NCBI36
NG_007484.2:g.6664A>T , LRG_490:g.6664A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.570A>T MANE Select	ENSP00000257904.5:p.Thr190=
ENST00000257904.10:c.570A>T	ENSP00000257904.5:p.Thr190=
ENST00000312990.10:c.265-47A>T	ENSP00000316889.6:n.265-47A>T
ENST00000546489.5:c.348A>T	ENSP00000447779.1:p.Thr116=
ENST00000547281.5:c.348A>T	ENSP00000447274.1:p.Thr116=
ENST00000549606.5:c.-157-1214A>T	ENSP00000447005.1:n.-157-1214A>T
ENST00000550419.5:c.523-155A>T	ENSP00000448098.1:n.523-155A>T
ENST00000551800.5:c.348A>T	ENSP00000449391.1:p.Thr116=
ENST00000551888.5:n.443-47A>T
ENST00000552254.5:c.570A>T	ENSP00000449179.1:p.Thr190=
ENST00000553237.5:c.*209A>T	ENSP00000448885.1:n.*209A>T
NM_000075.3:c.570A>T	NP_000066.1:p.Thr190=
NM_000075.4:c.570A>T MANE Select	NP_000066.1:p.Thr190=