Canonical Allele Identifier: CA385545510

Gene: CDK4

Linked Data

• ClinVar Variation Id: 826327
• ClinVar RCV Id: RCV001025141
• dbSNP Id: rs765656720
• MyVariant Identifiers: chr12:g.58144439T>A (hg19) ; chr12:g.57750656T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750656T>A , CM000674.2:g.57750656T>A	GRCh38
NC_000012.11:g.58144439T>A , CM000674.1:g.58144439T>A	GRCh37
NC_000012.10:g.56430706T>A	NCBI36
NG_007484.2:g.6726A>T , LRG_490:g.6726A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.632A>T MANE Select	ENSP00000257904.5:p.Lys211Met
ENST00000257904.10:c.632A>T	ENSP00000257904.5:p.Lys211Met
ENST00000312990.10:c.280A>T	ENSP00000316889.6:p.Ser94Cys
ENST00000546489.5:c.410A>T	ENSP00000447779.1:p.Lys137Met
ENST00000547281.5:c.410A>T	ENSP00000447274.1:p.Lys137Met
ENST00000549606.5:c.-157-1152A>T	ENSP00000447005.1:n.-157-1152A>T
ENST00000550419.5:c.523-93A>T	ENSP00000448098.1:n.523-93A>T
ENST00000551888.5:n.458A>T
ENST00000553237.5:c.*271A>T	ENSP00000448885.1:n.*271A>T
NM_000075.3:c.632A>T	NP_000066.1:p.Lys211Met
NM_000075.4:c.632A>T MANE Select	NP_000066.1:p.Lys211Met