Canonical Allele Identifier: CA385546083

Gene: CDK4

Linked Data

• dbSNP Id: rs2140386282
• COSMIC: COSM942200
• MyVariant Identifiers: chr12:g.58144707A>C (hg19) ; chr12:g.57750924A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750924A>C , CM000674.2:g.57750924A>C	GRCh38
NC_000012.11:g.58144707A>C , CM000674.1:g.58144707A>C	GRCh37
NC_000012.10:g.56430974A>C	NCBI36
NG_007484.2:g.6458T>G , LRG_490:g.6458T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.521T>G MANE Select	ENSP00000257904.5:p.Val174Gly
ENST00000257904.10:c.521T>G	ENSP00000257904.5:p.Val174Gly
ENST00000312990.10:c.265-253T>G	ENSP00000316889.6:n.265-253T>G
ENST00000546489.5:c.299T>G	ENSP00000447779.1:p.Val100Gly
ENST00000547281.5:c.299T>G	ENSP00000447274.1:p.Val100Gly
ENST00000549606.5:c.-158+1251T>G	ENSP00000447005.1:n.-158+1251T>G
ENST00000550419.5:c.521T>G	ENSP00000448098.1:p.Val174Gly
ENST00000551706.1:n.887T>G
ENST00000551800.5:c.299T>G	ENSP00000449391.1:p.Val100Gly
ENST00000551888.5:n.443-253T>G
ENST00000552254.5:c.521T>G	ENSP00000449179.1:p.Val174Gly
ENST00000553237.5:c.*160T>G	ENSP00000448885.1:n.*160T>G
NM_000075.3:c.521T>G	NP_000066.1:p.Val174Gly
NM_000075.4:c.521T>G MANE Select	NP_000066.1:p.Val174Gly