Canonical Allele Identifier: CA385547516

Gene: CDK4

Linked Data

• ClinVar Variation Id: 2829044
• ClinVar RCV Id: RCV003747205
• dbSNP Id: rs772938517
• MyVariant Identifiers: chr12:g.58145001C>A (hg19) ; chr12:g.57751218C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57751218C>A , CM000674.2:g.57751218C>A	GRCh38
NC_000012.11:g.58145001C>A , CM000674.1:g.58145001C>A	GRCh37
NC_000012.10:g.56431268C>A	NCBI36
NG_007484.2:g.6164G>T , LRG_490:g.6164G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.343G>T MANE Select	ENSP00000257904.5:p.Glu115Ter
ENST00000257904.10:c.343G>T	ENSP00000257904.5:p.Glu115Ter
ENST00000312990.10:c.264+79G>T	ENSP00000316889.6:n.264+79G>T
ENST00000546489.5:c.121G>T	ENSP00000447779.1:p.Glu41Ter
ENST00000547281.5:c.121G>T	ENSP00000447274.1:p.Glu41Ter
ENST00000549606.5:c.-158+957G>T	ENSP00000447005.1:n.-158+957G>T
ENST00000550419.5:c.343G>T	ENSP00000448098.1:p.Glu115Ter
ENST00000551706.1:n.709G>T
ENST00000551800.5:c.121G>T	ENSP00000449391.1:p.Glu41Ter
ENST00000551888.5:n.442+79G>T
ENST00000552254.5:c.343G>T	ENSP00000449179.1:p.Glu115Ter
ENST00000552388.1:c.343G>T	ENSP00000448963.1:p.Glu115Ter
ENST00000552862.1:c.343G>T	ENSP00000446763.1:p.Glu115Ter
ENST00000553237.5:c.219-128G>T	ENSP00000448885.1:n.219-128G>T
NM_000075.3:c.343G>T	NP_000066.1:p.Glu115Ter
NM_000075.4:c.343G>T MANE Select	NP_000066.1:p.Glu115Ter