Canonical Allele Identifier: CA480301269
Gene: CDK4 HGNC NCBI

Linked Data

dbSNP Id: rs1955226870
MyVariant Identifiers: chr12:g.58144512G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57750729G>A , CM000674.2:g.57750729G>A GRCh38
NC_000012.11:g.58144512G>A , CM000674.1:g.58144512G>A GRCh37
NC_000012.10:g.56430779G>A NCBI36
NG_007484.2:g.6653C>T , LRG_490:g.6653C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000257904.11:c.559C>T MANE Select ENSP00000257904.5:p.Leu187=
ENST00000257904.10:c.559C>T ENSP00000257904.5:p.Leu187=
ENST00000312990.10:c.265-58C>T ENSP00000316889.6:n.265-58C>T
ENST00000546489.5:c.337C>T ENSP00000447779.1:p.Leu113=
ENST00000547281.5:c.337C>T ENSP00000447274.1:p.Leu113=
ENST00000549606.5:c.-157-1225C>T ENSP00000447005.1:n.-157-1225C>T
ENST00000550419.5:c.523-166C>T ENSP00000448098.1:n.523-166C>T
ENST00000551800.5:c.337C>T ENSP00000449391.1:p.Leu113=
ENST00000551888.5:n.443-58C>T
ENST00000552254.5:c.559C>T ENSP00000449179.1:p.Leu187=
ENST00000553237.5:c.*198C>T ENSP00000448885.1:n.*198C>T
NM_000075.3:c.559C>T NP_000066.1:p.Leu187=
NM_000075.4:c.559C>T MANE Select NP_000066.1:p.Leu187=