Canonical Allele Identifier: CA16613768

Gene: CDK4

Linked Data

• ClinVar Variation Id: 408335
• ClinVar RCV Id: RCV001024773 ; RCV003168799
• dbSNP Id: rs1060501929
• gnomAD v4: 12-57750689-A-G
• MyVariant Identifiers: chr12:g.58144472A>G (hg19) ; chr12:g.57750689A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750689A>G , CM000674.2:g.57750689A>G	GRCh38
NC_000012.11:g.58144472A>G , CM000674.1:g.58144472A>G	GRCh37
NC_000012.10:g.56430739A>G	NCBI36
NG_007484.2:g.6693T>C , LRG_490:g.6693T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.599T>C MANE Select	ENSP00000257904.5:p.Val200Ala
ENST00000257904.10:c.599T>C	ENSP00000257904.5:p.Val200Ala
ENST00000312990.10:c.265-18T>C	ENSP00000316889.6:n.265-18T>C
ENST00000546489.5:c.377T>C	ENSP00000447779.1:p.Val126Ala
ENST00000547281.5:c.377T>C	ENSP00000447274.1:p.Val126Ala
ENST00000549606.5:c.-157-1185T>C	ENSP00000447005.1:n.-157-1185T>C
ENST00000550419.5:c.523-126T>C	ENSP00000448098.1:n.523-126T>C
ENST00000551800.5:c.377T>C	ENSP00000449391.1:p.Val126Ala
ENST00000551888.5:n.443-18T>C
ENST00000552254.5:c.599T>C	ENSP00000449179.1:p.Val200Ala
ENST00000553237.5:c.*238T>C	ENSP00000448885.1:n.*238T>C
NM_000075.3:c.599T>C	NP_000066.1:p.Val200Ala
NM_000075.4:c.599T>C MANE Select	NP_000066.1:p.Val200Ala