Canonical Allele Identifier: CA605327107

Gene: CDK4

Linked Data

• dbSNP Id: rs1397979744
• gnomAD v2: 12-58144435-A-C
• gnomAD v4: 12-57750652-A-C
• MyVariant Identifiers: chr12:g.58144435A>C (hg19) ; chr12:g.57750652A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750652A>C , CM000674.2:g.57750652A>C	GRCh38
NC_000012.11:g.58144435A>C , CM000674.1:g.58144435A>C	GRCh37
NC_000012.10:g.56430702A>C	NCBI36
NG_007484.2:g.6730T>G , LRG_490:g.6730T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.632+4T>G MANE Select	ENSP00000257904.5:n.632+4T>G
ENST00000257904.10:c.632+4T>G	ENSP00000257904.5:n.632+4T>G
ENST00000312990.10:c.280+4T>G	ENSP00000316889.6:n.280+4T>G
ENST00000546489.5:c.410+4T>G	ENSP00000447779.1:n.410+4T>G
ENST00000547281.5:c.410+4T>G	ENSP00000447274.1:n.410+4T>G
ENST00000549606.5:c.-157-1148T>G	ENSP00000447005.1:n.-157-1148T>G
ENST00000550419.5:c.523-89T>G	ENSP00000448098.1:n.523-89T>G
ENST00000551888.5:n.458+4T>G
ENST00000553237.5:c.*271+4T>G	ENSP00000448885.1:n.*271+4T>G
NM_000075.3:c.632+4T>G	NP_000066.1:n.632+4T>G
NM_000075.4:c.632+4T>G MANE Select	NP_000066.1:n.632+4T>G