Canonical Allele Identifier: CA385545873

Gene: CDK4

Linked Data

• ClinVar Variation Id: 483316
• ClinVar RCV Id: RCV000563471 ; RCV001858280
• dbSNP Id: rs1555201274
• gnomAD v4: 12-57750726-G-T
• MyVariant Identifiers: chr12:g.58144509G>T (hg19) ; chr12:g.57750726G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750726G>T , CM000674.2:g.57750726G>T	GRCh38
NC_000012.11:g.58144509G>T , CM000674.1:g.58144509G>T	GRCh37
NC_000012.10:g.56430776G>T	NCBI36
NG_007484.2:g.6656C>A , LRG_490:g.6656C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.562C>A MANE Select	ENSP00000257904.5:p.Gln188Lys
ENST00000257904.10:c.562C>A	ENSP00000257904.5:p.Gln188Lys
ENST00000312990.10:c.265-55C>A	ENSP00000316889.6:n.265-55C>A
ENST00000546489.5:c.340C>A	ENSP00000447779.1:p.Gln114Lys
ENST00000547281.5:c.340C>A	ENSP00000447274.1:p.Gln114Lys
ENST00000549606.5:c.-157-1222C>A	ENSP00000447005.1:n.-157-1222C>A
ENST00000550419.5:c.523-163C>A	ENSP00000448098.1:n.523-163C>A
ENST00000551800.5:c.340C>A	ENSP00000449391.1:p.Gln114Lys
ENST00000551888.5:n.443-55C>A
ENST00000552254.5:c.562C>A	ENSP00000449179.1:p.Gln188Lys
ENST00000553237.5:c.*201C>A	ENSP00000448885.1:n.*201C>A
NM_000075.3:c.562C>A	NP_000066.1:p.Gln188Lys
NM_000075.4:c.562C>A MANE Select	NP_000066.1:p.Gln188Lys