Canonical Allele Identifier: CA385546108

Gene: CDK4

Linked Data

• gnomAD v4: 12-57750930-G-T
• MyVariant Identifiers: chr12:g.58144713G>T (hg19) ; chr12:g.57750930G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750930G>T , CM000674.2:g.57750930G>T	GRCh38
NC_000012.11:g.58144713G>T , CM000674.1:g.58144713G>T	GRCh37
NC_000012.10:g.56430980G>T	NCBI36
NG_007484.2:g.6452C>A , LRG_490:g.6452C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.515C>A MANE Select	ENSP00000257904.5:p.Thr172Lys
ENST00000257904.10:c.515C>A	ENSP00000257904.5:p.Thr172Lys
ENST00000312990.10:c.265-259C>A	ENSP00000316889.6:n.265-259C>A
ENST00000546489.5:c.293C>A	ENSP00000447779.1:p.Thr98Lys
ENST00000547281.5:c.293C>A	ENSP00000447274.1:p.Thr98Lys
ENST00000549606.5:c.-158+1245C>A	ENSP00000447005.1:n.-158+1245C>A
ENST00000550419.5:c.515C>A	ENSP00000448098.1:p.Thr172Lys
ENST00000551706.1:n.881C>A
ENST00000551800.5:c.293C>A	ENSP00000449391.1:p.Thr98Lys
ENST00000551888.5:n.443-259C>A
ENST00000552254.5:c.515C>A	ENSP00000449179.1:p.Thr172Lys
ENST00000553237.5:c.*154C>A	ENSP00000448885.1:n.*154C>A
NM_000075.3:c.515C>A	NP_000066.1:p.Thr172Lys
NM_000075.4:c.515C>A MANE Select	NP_000066.1:p.Thr172Lys