Canonical Allele Identifier: CA480404431

Gene: CDK4

Linked Data

• ClinVar Variation Id: 1575630
• ClinVar RCV Id: RCV002092913 ; RCV002337251
• dbSNP Id: rs2140386433
• MyVariant Identifiers: chr12:g.58144757A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750974A>G , CM000674.2:g.57750974A>G	GRCh38
NC_000012.11:g.58144757A>G , CM000674.1:g.58144757A>G	GRCh37
NC_000012.10:g.56431024A>G	NCBI36
NG_007484.2:g.6408T>C , LRG_490:g.6408T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.471T>C MANE Select	ENSP00000257904.5:p.Ala157=
ENST00000257904.10:c.471T>C	ENSP00000257904.5:p.Ala157=
ENST00000312990.10:c.265-303T>C	ENSP00000316889.6:n.265-303T>C
ENST00000546489.5:c.249T>C	ENSP00000447779.1:p.Ala83=
ENST00000547281.5:c.249T>C	ENSP00000447274.1:p.Ala83=
ENST00000549606.5:c.-158+1201T>C	ENSP00000447005.1:n.-158+1201T>C
ENST00000550419.5:c.471T>C	ENSP00000448098.1:p.Ala157=
ENST00000551706.1:n.837T>C
ENST00000551800.5:c.249T>C	ENSP00000449391.1:p.Ala83=
ENST00000551888.5:n.443-303T>C
ENST00000552254.5:c.471T>C	ENSP00000449179.1:p.Ala157=
ENST00000552388.1:c.471T>C	ENSP00000448963.1:p.Ala157=
ENST00000553237.5:c.*110T>C	ENSP00000448885.1:n.*110T>C
NM_000075.3:c.471T>C	NP_000066.1:p.Ala157=
NM_000075.4:c.471T>C MANE Select	NP_000066.1:p.Ala157=