Canonical Allele Identifier: CA480301421

Gene: CDK4

Linked Data

• ClinVar Variation Id: 2765402
• ClinVar RCV Id: RCV003584351
• dbSNP Id: rs2140385880
• gnomAD v4: 12-57750757-T-G
• MyVariant Identifiers: chr12:g.58144540T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750757T>G , CM000674.2:g.57750757T>G	GRCh38
NC_000012.11:g.58144540T>G , CM000674.1:g.58144540T>G	GRCh37
NC_000012.10:g.56430807T>G	NCBI36
NG_007484.2:g.6625A>C , LRG_490:g.6625A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.531A>C MANE Select	ENSP00000257904.5:p.Thr177=
ENST00000257904.10:c.531A>C	ENSP00000257904.5:p.Thr177=
ENST00000312990.10:c.265-86A>C	ENSP00000316889.6:n.265-86A>C
ENST00000546489.5:c.309A>C	ENSP00000447779.1:p.Thr103=
ENST00000547281.5:c.309A>C	ENSP00000447274.1:p.Thr103=
ENST00000549606.5:c.-157-1253A>C	ENSP00000447005.1:n.-157-1253A>C
ENST00000550419.5:c.522+166A>C	ENSP00000448098.1:n.522+166A>C
ENST00000551800.5:c.309A>C	ENSP00000449391.1:p.Thr103=
ENST00000551888.5:n.443-86A>C
ENST00000552254.5:c.531A>C	ENSP00000449179.1:p.Thr177=
ENST00000553237.5:c.*170A>C	ENSP00000448885.1:n.*170A>C
NM_000075.3:c.531A>C	NP_000066.1:p.Thr177=
NM_000075.4:c.531A>C MANE Select	NP_000066.1:p.Thr177=