Canonical Allele Identifier: CA6657802

Gene: CDK4

Linked Data

• ClinVar Variation Id: 463470
• ClinVar RCV Id: RCV000552564 ; RCV001109393 ; RCV002341314
• dbSNP Id: rs770086242
• ExAC: 12:58144724 C / T
• gnomAD v2: 12-58144724-C-T
• gnomAD v3: 12-57750941-C-T
• gnomAD v4: 12-57750941-C-T
• MyVariant Identifiers: chr12:g.58144724C>T (hg19) ; chr12:g.57750941C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750941C>T , CM000674.2:g.57750941C>T	GRCh38
NC_000012.11:g.58144724C>T , CM000674.1:g.58144724C>T	GRCh37
NC_000012.10:g.56430991C>T	NCBI36
NG_007484.2:g.6441G>A , LRG_490:g.6441G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.504G>A MANE Select	ENSP00000257904.5:p.Gln168=
ENST00000257904.10:c.504G>A	ENSP00000257904.5:p.Gln168=
ENST00000312990.10:c.265-270G>A	ENSP00000316889.6:n.265-270G>A
ENST00000546489.5:c.282G>A	ENSP00000447779.1:p.Gln94=
ENST00000547281.5:c.282G>A	ENSP00000447274.1:p.Gln94=
ENST00000549606.5:c.-158+1234G>A	ENSP00000447005.1:n.-158+1234G>A
ENST00000550419.5:c.504G>A	ENSP00000448098.1:p.Gln168=
ENST00000551706.1:n.870G>A
ENST00000551800.5:c.282G>A	ENSP00000449391.1:p.Gln94=
ENST00000551888.5:n.443-270G>A
ENST00000552254.5:c.504G>A	ENSP00000449179.1:p.Gln168=
ENST00000552388.1:c.504G>A	ENSP00000448963.1:p.Gln168=
ENST00000553237.5:c.*143G>A	ENSP00000448885.1:n.*143G>A
NM_000075.3:c.504G>A	NP_000066.1:p.Gln168=
NM_000075.4:c.504G>A MANE Select	NP_000066.1:p.Gln168=