Canonical Allele Identifier: CA6657798

Gene: CDK4

Linked Data

• ClinVar Variation Id: 229722
• ClinVar RCV Id: RCV000213431 ; RCV000588830 ; RCV000945799
• dbSNP Id: rs747084709
• ExAC: 12:58144709 G / A
• gnomAD v2: 12-58144709-G-A
• gnomAD v4: 12-57750926-G-A
• MyVariant Identifiers: chr12:g.58144709G>A (hg19) ; chr12:g.57750926G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750926G>A , CM000674.2:g.57750926G>A	GRCh38
NC_000012.11:g.58144709G>A , CM000674.1:g.58144709G>A	GRCh37
NC_000012.10:g.56430976G>A	NCBI36
NG_007484.2:g.6456C>T , LRG_490:g.6456C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.519C>T MANE Select	ENSP00000257904.5:p.Pro173=
ENST00000257904.10:c.519C>T	ENSP00000257904.5:p.Pro173=
ENST00000312990.10:c.265-255C>T	ENSP00000316889.6:n.265-255C>T
ENST00000546489.5:c.297C>T	ENSP00000447779.1:p.Pro99=
ENST00000547281.5:c.297C>T	ENSP00000447274.1:p.Pro99=
ENST00000549606.5:c.-158+1249C>T	ENSP00000447005.1:n.-158+1249C>T
ENST00000550419.5:c.519C>T	ENSP00000448098.1:p.Pro173=
ENST00000551706.1:n.885C>T
ENST00000551800.5:c.297C>T	ENSP00000449391.1:p.Pro99=
ENST00000551888.5:n.443-255C>T
ENST00000552254.5:c.519C>T	ENSP00000449179.1:p.Pro173=
ENST00000553237.5:c.*158C>T	ENSP00000448885.1:n.*158C>T
NM_000075.3:c.519C>T	NP_000066.1:p.Pro173=
NM_000075.4:c.519C>T MANE Select	NP_000066.1:p.Pro173=