Canonical Allele Identifier: CA385545546

Gene: CDK4

Linked Data

• ClinVar Variation Id: 1752384
• ClinVar RCV Id: RCV002366617
• MyVariant Identifiers: chr12:g.58144448A>G (hg19) ; chr12:g.57750665A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750665A>G , CM000674.2:g.57750665A>G	GRCh38
NC_000012.11:g.58144448A>G , CM000674.1:g.58144448A>G	GRCh37
NC_000012.10:g.56430715A>G	NCBI36
NG_007484.2:g.6717T>C , LRG_490:g.6717T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.623T>C MANE Select	ENSP00000257904.5:p.Phe208Ser
ENST00000257904.10:c.623T>C	ENSP00000257904.5:p.Phe208Ser
ENST00000312990.10:c.271T>C	ENSP00000316889.6:p.Phe91Leu
ENST00000546489.5:c.401T>C	ENSP00000447779.1:p.Phe134Ser
ENST00000547281.5:c.401T>C	ENSP00000447274.1:p.Phe134Ser
ENST00000549606.5:c.-157-1161T>C	ENSP00000447005.1:n.-157-1161T>C
ENST00000550419.5:c.523-102T>C	ENSP00000448098.1:n.523-102T>C
ENST00000551888.5:n.449T>C
ENST00000553237.5:c.*262T>C	ENSP00000448885.1:n.*262T>C
NM_000075.3:c.623T>C	NP_000066.1:p.Phe208Ser
NM_000075.4:c.623T>C MANE Select	NP_000066.1:p.Phe208Ser