Canonical Allele Identifier: CA6657768

Gene: CDK4

Linked Data

• dbSNP Id: rs760843548
• ExAC: 12:58144416 T / G
• gnomAD v2: 12-58144416-T-G
• gnomAD v4: 12-57750633-T-G
• MyVariant Identifiers: chr12:g.58144416T>G (hg19) ; chr12:g.57750633T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750633T>G , CM000674.2:g.57750633T>G	GRCh38
NC_000012.11:g.58144416T>G , CM000674.1:g.58144416T>G	GRCh37
NC_000012.10:g.56430683T>G	NCBI36
NG_007484.2:g.6749A>C , LRG_490:g.6749A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.632+23A>C MANE Select	ENSP00000257904.5:n.632+23A>C
ENST00000257904.10:c.632+23A>C	ENSP00000257904.5:n.632+23A>C
ENST00000312990.10:c.280+23A>C	ENSP00000316889.6:n.280+23A>C
ENST00000546489.5:c.410+23A>C	ENSP00000447779.1:n.410+23A>C
ENST00000547281.5:c.410+23A>C	ENSP00000447274.1:n.410+23A>C
ENST00000549606.5:c.-157-1129A>C	ENSP00000447005.1:n.-157-1129A>C
ENST00000550419.5:c.523-70A>C	ENSP00000448098.1:n.523-70A>C
ENST00000551888.5:n.458+23A>C
ENST00000553237.5:c.*271+23A>C	ENSP00000448885.1:n.*271+23A>C
NM_000075.3:c.632+23A>C	NP_000066.1:n.632+23A>C
NM_000075.4:c.632+23A>C MANE Select	NP_000066.1:n.632+23A>C