Canonical Allele Identifier: CA385545664

Gene: CDK4

Linked Data

• ClinVar Variation Id: 2586836
• ClinVar RCV Id: RCV003341889
• dbSNP Id: rs1228840061
• MyVariant Identifiers: chr12:g.58144469C>A (hg19) ; chr12:g.57750686C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750686C>A , CM000674.2:g.57750686C>A	GRCh38
NC_000012.11:g.58144469C>A , CM000674.1:g.58144469C>A	GRCh37
NC_000012.10:g.56430736C>A	NCBI36
NG_007484.2:g.6696G>T , LRG_490:g.6696G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.602G>T MANE Select	ENSP00000257904.5:p.Gly201Val
ENST00000257904.10:c.602G>T	ENSP00000257904.5:p.Gly201Val
ENST00000312990.10:c.265-15G>T	ENSP00000316889.6:n.265-15G>T
ENST00000546489.5:c.380G>T	ENSP00000447779.1:p.Gly127Val
ENST00000547281.5:c.380G>T	ENSP00000447274.1:p.Gly127Val
ENST00000549606.5:c.-157-1182G>T	ENSP00000447005.1:n.-157-1182G>T
ENST00000550419.5:c.523-123G>T	ENSP00000448098.1:n.523-123G>T
ENST00000551800.5:c.380G>T	ENSP00000449391.1:p.Gly127Val
ENST00000551888.5:n.443-15G>T
ENST00000552254.5:c.602G>T	ENSP00000449179.1:p.Gly201Val
ENST00000553237.5:c.*241G>T	ENSP00000448885.1:n.*241G>T
NM_000075.3:c.602G>T	NP_000066.1:p.Gly201Val
NM_000075.4:c.602G>T MANE Select	NP_000066.1:p.Gly201Val