Canonical Allele Identifier: CA385545672

Gene: CDK4

Linked Data

• dbSNP Id: rs2140385673
• MyVariant Identifiers: chr12:g.58144470C>A (hg19) ; chr12:g.57750687C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750687C>A , CM000674.2:g.57750687C>A	GRCh38
NC_000012.11:g.58144470C>A , CM000674.1:g.58144470C>A	GRCh37
NC_000012.10:g.56430737C>A	NCBI36
NG_007484.2:g.6695G>T , LRG_490:g.6695G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.601G>T MANE Select	ENSP00000257904.5:p.Gly201Cys
ENST00000257904.10:c.601G>T	ENSP00000257904.5:p.Gly201Cys
ENST00000312990.10:c.265-16G>T	ENSP00000316889.6:n.265-16G>T
ENST00000546489.5:c.379G>T	ENSP00000447779.1:p.Gly127Cys
ENST00000547281.5:c.379G>T	ENSP00000447274.1:p.Gly127Cys
ENST00000549606.5:c.-157-1183G>T	ENSP00000447005.1:n.-157-1183G>T
ENST00000550419.5:c.523-124G>T	ENSP00000448098.1:n.523-124G>T
ENST00000551800.5:c.379G>T	ENSP00000449391.1:p.Gly127Cys
ENST00000551888.5:n.443-16G>T
ENST00000552254.5:c.601G>T	ENSP00000449179.1:p.Gly201Cys
ENST00000553237.5:c.*240G>T	ENSP00000448885.1:n.*240G>T
NM_000075.3:c.601G>T	NP_000066.1:p.Gly201Cys
NM_000075.4:c.601G>T MANE Select	NP_000066.1:p.Gly201Cys