Canonical Allele Identifier: CA6657740

Gene: CDK4

Linked Data

• dbSNP Id: rs747888586
• ExAC: 12:58144272 C / T
• gnomAD v2: 12-58144272-C-T
• MyVariant Identifiers: chr12:g.58144272C>T (hg19) ; chr12:g.57750489C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750489C>T , CM000674.2:g.57750489C>T	GRCh38
NC_000012.11:g.58144272C>T , CM000674.1:g.58144272C>T	GRCh37
NC_000012.10:g.56430539C>T	NCBI36
NG_007484.2:g.6893G>A , LRG_490:g.6893G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.632+167G>A MANE Select	ENSP00000257904.5:n.632+167G>A
ENST00000257904.10:c.632+167G>A	ENSP00000257904.5:n.632+167G>A
ENST00000312990.10:c.280+167G>A	ENSP00000316889.6:n.280+167G>A
ENST00000546489.5:c.410+167G>A	ENSP00000447779.1:n.410+167G>A
ENST00000547281.5:c.410+167G>A	ENSP00000447274.1:n.410+167G>A
ENST00000549606.5:c.-157-985G>A	ENSP00000447005.1:n.-157-985G>A
ENST00000550419.5:c.597G>A	ENSP00000448098.1:p.Gly199=
ENST00000551888.5:n.458+167G>A
ENST00000553237.5:c.*271+167G>A	ENSP00000448885.1:n.*271+167G>A
NM_000075.3:c.632+167G>A	NP_000066.1:n.632+167G>A
NM_000075.4:c.632+167G>A MANE Select	NP_000066.1:n.632+167G>A