Canonical Allele Identifier: CA6657772

Gene: CDK4

Linked Data

• ClinVar Variation Id: 485496
• ClinVar RCV Id: RCV000571213 ; RCV001853767
• dbSNP Id: rs765656720
• ExAC: 12:58144439 T / G
• gnomAD v2: 12-58144439-T-G
• gnomAD v4: 12-57750656-T-G
• MyVariant Identifiers: chr12:g.58144439T>G (hg19) ; chr12:g.57750656T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.632A>C MANE Select	ENSP00000257904.5:p.Lys211Thr
ENST00000257904.10:c.632A>C	ENSP00000257904.5:p.Lys211Thr
ENST00000312990.10:c.280A>C	ENSP00000316889.6:p.Ser94Arg
ENST00000546489.5:c.410A>C	ENSP00000447779.1:p.Lys137Thr
ENST00000547281.5:c.410A>C	ENSP00000447274.1:p.Lys137Thr
ENST00000549606.5:c.-157-1152A>C	ENSP00000447005.1:n.-157-1152A>C
ENST00000550419.5:c.523-93A>C	ENSP00000448098.1:n.523-93A>C
ENST00000551888.5:n.458A>C
ENST00000553237.5:c.*271A>C	ENSP00000448885.1:n.*271A>C
NM_000075.3:c.632A>C	NP_000066.1:p.Lys211Thr
NM_000075.4:c.632A>C MANE Select	NP_000066.1:p.Lys211Thr