Canonical Allele Identifier: CA6657782

Gene: CDK4

Linked Data

• dbSNP Id: rs151103937
• ExAC: 12:58144545 C / T
• gnomAD v2: 12-58144545-C-T
• gnomAD v3: 12-57750762-C-T
• gnomAD v4: 12-57750762-C-T
• MyVariant Identifiers: chr12:g.58144545C>T (hg19) ; chr12:g.57750762C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750762C>T , CM000674.2:g.57750762C>T	GRCh38
NC_000012.11:g.58144545C>T , CM000674.1:g.58144545C>T	GRCh37
NC_000012.10:g.56430812C>T	NCBI36
NG_007484.2:g.6620G>A , LRG_490:g.6620G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.526G>A MANE Select	ENSP00000257904.5:p.Val176Ile
ENST00000257904.10:c.526G>A	ENSP00000257904.5:p.Val176Ile
ENST00000312990.10:c.265-91G>A	ENSP00000316889.6:n.265-91G>A
ENST00000546489.5:c.304G>A	ENSP00000447779.1:p.Val102Ile
ENST00000547281.5:c.304G>A	ENSP00000447274.1:p.Val102Ile
ENST00000549606.5:c.-157-1258G>A	ENSP00000447005.1:n.-157-1258G>A
ENST00000550419.5:c.522+161G>A	ENSP00000448098.1:n.522+161G>A
ENST00000551800.5:c.304G>A	ENSP00000449391.1:p.Val102Ile
ENST00000551888.5:n.443-91G>A
ENST00000552254.5:c.526G>A	ENSP00000449179.1:p.Val176Ile
ENST00000553237.5:c.*165G>A	ENSP00000448885.1:n.*165G>A
NM_000075.3:c.526G>A	NP_000066.1:p.Val176Ile
NM_000075.4:c.526G>A MANE Select	NP_000066.1:p.Val176Ile