Canonical Allele Identifier: CA480404608

Gene: CDK4

Linked Data

• ClinVar Variation Id: 483285
• ClinVar RCV Id: RCV001463933
• dbSNP Id: rs1247612368
• MyVariant Identifiers: chr12:g.58145086C>T (hg19) ; chr12:g.57751303C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57751303C>T , CM000674.2:g.57751303C>T	GRCh38
NC_000012.11:g.58145086C>T , CM000674.1:g.58145086C>T	GRCh37
NC_000012.10:g.56431353C>T	NCBI36
NG_007484.2:g.6079G>A , LRG_490:g.6079G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.258G>A MANE Select	ENSP00000257904.5:p.Glu86=
ENST00000257904.10:c.258G>A	ENSP00000257904.5:p.Glu86=
ENST00000312990.10:c.258G>A	ENSP00000316889.6:p.Glu86=
ENST00000546489.5:c.36G>A	ENSP00000447779.1:p.Glu12=
ENST00000547281.5:c.36G>A	ENSP00000447274.1:p.Glu12=
ENST00000549606.5:c.-158+872G>A	ENSP00000447005.1:n.-158+872G>A
ENST00000550419.5:c.258G>A	ENSP00000448098.1:p.Glu86=
ENST00000551706.1:n.624G>A
ENST00000551800.5:c.36G>A	ENSP00000449391.1:p.Glu12=
ENST00000551888.5:n.436G>A
ENST00000552254.5:c.258G>A	ENSP00000449179.1:p.Glu86=
ENST00000552388.1:c.258G>A	ENSP00000448963.1:p.Glu86=
ENST00000552862.1:c.258G>A	ENSP00000446763.1:p.Glu86=
ENST00000553237.5:c.218+197G>A	ENSP00000448885.1:n.218+197G>A
NM_000075.3:c.258G>A	NP_000066.1:p.Glu86=
NM_000075.4:c.258G>A MANE Select	NP_000066.1:p.Glu86=