Canonical Allele Identifier: CA385546297

Gene: CDK4

Linked Data

• dbSNP Id: rs1223134958
• gnomAD v2: 12-58144752-A-C
• MyVariant Identifiers: chr12:g.58144752A>C (hg19) ; chr12:g.57750969A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750969A>C , CM000674.2:g.57750969A>C	GRCh38
NC_000012.11:g.58144752A>C , CM000674.1:g.58144752A>C	GRCh37
NC_000012.10:g.56431019A>C	NCBI36
NG_007484.2:g.6413T>G , LRG_490:g.6413T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.476T>G MANE Select	ENSP00000257904.5:p.Phe159Cys
ENST00000257904.10:c.476T>G	ENSP00000257904.5:p.Phe159Cys
ENST00000312990.10:c.265-298T>G	ENSP00000316889.6:n.265-298T>G
ENST00000546489.5:c.254T>G	ENSP00000447779.1:p.Phe85Cys
ENST00000547281.5:c.254T>G	ENSP00000447274.1:p.Phe85Cys
ENST00000549606.5:c.-158+1206T>G	ENSP00000447005.1:n.-158+1206T>G
ENST00000550419.5:c.476T>G	ENSP00000448098.1:p.Phe159Cys
ENST00000551706.1:n.842T>G
ENST00000551800.5:c.254T>G	ENSP00000449391.1:p.Phe85Cys
ENST00000551888.5:n.443-298T>G
ENST00000552254.5:c.476T>G	ENSP00000449179.1:p.Phe159Cys
ENST00000552388.1:c.476T>G	ENSP00000448963.1:p.Phe159Cys
ENST00000553237.5:c.*115T>G	ENSP00000448885.1:n.*115T>G
NM_000075.3:c.476T>G	NP_000066.1:p.Phe159Cys
NM_000075.4:c.476T>G MANE Select	NP_000066.1:p.Phe159Cys