Canonical Allele Identifier: CA237844267

Gene: CDK4

Linked Data

• ClinVar Variation Id: 483284
• ClinVar RCV Id: RCV000572505 ; RCV000780104 ; RCV000876451 ; RCV003392412
• dbSNP Id: rs796860515
• gnomAD v2: 12-58144747-G-A
• gnomAD v3: 12-57750964-G-A
• gnomAD v4: 12-57750964-G-A
• COSMIC: COSM327248
• MyVariant Identifiers: chr12:g.58144747G>A (hg19) ; chr12:g.57750964G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750964G>A , CM000674.2:g.57750964G>A	GRCh38
NC_000012.11:g.58144747G>A , CM000674.1:g.58144747G>A	GRCh37
NC_000012.10:g.56431014G>A	NCBI36
NG_007484.2:g.6418C>T , LRG_490:g.6418C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.481C>T MANE Select	ENSP00000257904.5:p.Leu161=
ENST00000257904.10:c.481C>T	ENSP00000257904.5:p.Leu161=
ENST00000312990.10:c.265-293C>T	ENSP00000316889.6:n.265-293C>T
ENST00000546489.5:c.259C>T	ENSP00000447779.1:p.Leu87=
ENST00000547281.5:c.259C>T	ENSP00000447274.1:p.Leu87=
ENST00000549606.5:c.-158+1211C>T	ENSP00000447005.1:n.-158+1211C>T
ENST00000550419.5:c.481C>T	ENSP00000448098.1:p.Leu161=
ENST00000551706.1:n.847C>T
ENST00000551800.5:c.259C>T	ENSP00000449391.1:p.Leu87=
ENST00000551888.5:n.443-293C>T
ENST00000552254.5:c.481C>T	ENSP00000449179.1:p.Leu161=
ENST00000552388.1:c.481C>T	ENSP00000448963.1:p.Leu161=
ENST00000553237.5:c.*120C>T	ENSP00000448885.1:n.*120C>T
NM_000075.3:c.481C>T	NP_000066.1:p.Leu161=
NM_000075.4:c.481C>T MANE Select	NP_000066.1:p.Leu161=