Canonical Allele Identifier: CA480404835

Gene: CDK4

Linked Data

• ClinVar Variation Id: 761928
• ClinVar RCV Id: RCV001425260
• dbSNP Id: rs1595110993
• gnomAD v3: 12-57751540-G-A
• gnomAD v4: 12-57751540-G-A
• MyVariant Identifiers: chr12:g.58145323G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57751540G>A , CM000674.2:g.57751540G>A	GRCh38
NC_000012.11:g.58145323G>A , CM000674.1:g.58145323G>A	GRCh37
NC_000012.10:g.56431590G>A	NCBI36
NG_007484.2:g.5842C>T , LRG_490:g.5842C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.178C>T MANE Select	ENSP00000257904.5:p.Leu60=
ENST00000257904.10:c.178C>T	ENSP00000257904.5:p.Leu60=
ENST00000312990.10:c.178C>T	ENSP00000316889.6:p.Leu60=
ENST00000546489.5:c.-4-198C>T	ENSP00000447779.1:n.-4-198C>T
ENST00000547281.5:c.-45C>T	ENSP00000447274.1:n.-45C>T
ENST00000549606.5:c.-158+635C>T	ENSP00000447005.1:n.-158+635C>T
ENST00000550419.5:c.178C>T	ENSP00000448098.1:p.Leu60=
ENST00000551706.1:n.387C>T
ENST00000551800.5:c.-45C>T	ENSP00000449391.1:n.-45C>T
ENST00000551888.5:n.356C>T
ENST00000552254.5:c.178C>T	ENSP00000449179.1:p.Leu60=
ENST00000552388.1:c.178C>T	ENSP00000448963.1:p.Leu60=
ENST00000552862.1:c.178C>T	ENSP00000446763.1:p.Leu60=
ENST00000553237.5:c.178C>T	ENSP00000448885.1:p.Leu60=
NM_000075.3:c.178C>T	NP_000066.1:p.Leu60=
NM_000075.4:c.178C>T MANE Select	NP_000066.1:p.Leu60=