Canonical Allele Identifier: CA6657781

Gene: CDK4

Linked Data

• ClinVar Variation Id: 483287
• ClinVar RCV Id: RCV000574733 ; RCV001060676
• dbSNP Id: rs772079285
• ExAC: 12:58144529 C / T
• gnomAD v2: 12-58144529-C-T
• gnomAD v3: 12-57750746-C-T
• gnomAD v4: 12-57750746-C-T
• MyVariant Identifiers: chr12:g.58144529C>T (hg19) ; chr12:g.57750746C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750746C>T , CM000674.2:g.57750746C>T	GRCh38
NC_000012.11:g.58144529C>T , CM000674.1:g.58144529C>T	GRCh37
NC_000012.10:g.56430796C>T	NCBI36
NG_007484.2:g.6636G>A , LRG_490:g.6636G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.542G>A MANE Select	ENSP00000257904.5:p.Arg181Gln
ENST00000257904.10:c.542G>A	ENSP00000257904.5:p.Arg181Gln
ENST00000312990.10:c.265-75G>A	ENSP00000316889.6:n.265-75G>A
ENST00000546489.5:c.320G>A	ENSP00000447779.1:p.Arg107Gln
ENST00000547281.5:c.320G>A	ENSP00000447274.1:p.Arg107Gln
ENST00000549606.5:c.-157-1242G>A	ENSP00000447005.1:n.-157-1242G>A
ENST00000550419.5:c.522+177G>A	ENSP00000448098.1:n.522+177G>A
ENST00000551800.5:c.320G>A	ENSP00000449391.1:p.Arg107Gln
ENST00000551888.5:n.443-75G>A
ENST00000552254.5:c.542G>A	ENSP00000449179.1:p.Arg181Gln
ENST00000553237.5:c.*181G>A	ENSP00000448885.1:n.*181G>A
NM_000075.3:c.542G>A	NP_000066.1:p.Arg181Gln
NM_000075.4:c.542G>A MANE Select	NP_000066.1:p.Arg181Gln