Canonical Allele Identifier: CA385546312

Gene: CDK4

Linked Data

• ClinVar Variation Id: 2699605
• ClinVar RCV Id: RCV003585466
• dbSNP Id: rs2140386416
• MyVariant Identifiers: chr12:g.58144754G>C (hg19) ; chr12:g.57750971G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750971G>C , CM000674.2:g.57750971G>C	GRCh38
NC_000012.11:g.58144754G>C , CM000674.1:g.58144754G>C	GRCh37
NC_000012.10:g.56431021G>C	NCBI36
NG_007484.2:g.6411C>G , LRG_490:g.6411C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.474C>G MANE Select	ENSP00000257904.5:p.Asp158Glu
ENST00000257904.10:c.474C>G	ENSP00000257904.5:p.Asp158Glu
ENST00000312990.10:c.265-300C>G	ENSP00000316889.6:n.265-300C>G
ENST00000546489.5:c.252C>G	ENSP00000447779.1:p.Asp84Glu
ENST00000547281.5:c.252C>G	ENSP00000447274.1:p.Asp84Glu
ENST00000549606.5:c.-158+1204C>G	ENSP00000447005.1:n.-158+1204C>G
ENST00000550419.5:c.474C>G	ENSP00000448098.1:p.Asp158Glu
ENST00000551706.1:n.840C>G
ENST00000551800.5:c.252C>G	ENSP00000449391.1:p.Asp84Glu
ENST00000551888.5:n.443-300C>G
ENST00000552254.5:c.474C>G	ENSP00000449179.1:p.Asp158Glu
ENST00000552388.1:c.474C>G	ENSP00000448963.1:p.Asp158Glu
ENST00000553237.5:c.*113C>G	ENSP00000448885.1:n.*113C>G
NM_000075.3:c.474C>G	NP_000066.1:p.Asp158Glu
NM_000075.4:c.474C>G MANE Select	NP_000066.1:p.Asp158Glu