Canonical Allele Identifier: CA197734
Gene: CDK4 HGNC NCBI

Linked Data

ClinVar Variation Id: 187472
ClinVar RCV Id: RCV000167205
dbSNP Id: rs781207390

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57751064G>A , CM000674.2:g.57751064G>A GRCh38
NC_000012.11:g.58144847G>A , CM000674.1:g.58144847G>A GRCh37
NC_000012.10:g.56431114G>A NCBI36
NG_007484.2:g.6318C>T , LRG_490:g.6318C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000257904.11:c.381C>T MANE Select ENSP00000257904.5:p.Gly127=
ENST00000257904.10:c.381C>T ENSP00000257904.5:p.Gly127=
ENST00000312990.10:c.264+233C>T ENSP00000316889.6:n.264+233C>T
ENST00000546489.5:c.159C>T ENSP00000447779.1:p.Gly53=
ENST00000547281.5:c.159C>T ENSP00000447274.1:p.Gly53=
ENST00000549606.5:c.-158+1111C>T ENSP00000447005.1:n.-158+1111C>T
ENST00000550419.5:c.381C>T ENSP00000448098.1:p.Gly127=
ENST00000551706.1:n.747C>T
ENST00000551800.5:c.159C>T ENSP00000449391.1:p.Gly53=
ENST00000551888.5:n.442+233C>T
ENST00000552254.5:c.381C>T ENSP00000449179.1:p.Gly127=
ENST00000552388.1:c.381C>T ENSP00000448963.1:p.Gly127=
ENST00000553237.5:c.*20C>T ENSP00000448885.1:n.*20C>T
NM_000075.3:c.381C>T NP_000066.1:p.Gly127=
NM_000075.4:c.381C>T MANE Select NP_000066.1:p.Gly127=