Canonical Allele Identifier: CA385545866

Gene: CDK4

Linked Data

• dbSNP Id: rs1057521685
• MyVariant Identifiers: chr12:g.58144507C>G (hg19) ; chr12:g.57750724C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750724C>G , CM000674.2:g.57750724C>G	GRCh38
NC_000012.11:g.58144507C>G , CM000674.1:g.58144507C>G	GRCh37
NC_000012.10:g.56430774C>G	NCBI36
NG_007484.2:g.6658G>C , LRG_490:g.6658G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.564G>C MANE Select	ENSP00000257904.5:p.Gln188His
ENST00000257904.10:c.564G>C	ENSP00000257904.5:p.Gln188His
ENST00000312990.10:c.265-53G>C	ENSP00000316889.6:n.265-53G>C
ENST00000546489.5:c.342G>C	ENSP00000447779.1:p.Gln114His
ENST00000547281.5:c.342G>C	ENSP00000447274.1:p.Gln114His
ENST00000549606.5:c.-157-1220G>C	ENSP00000447005.1:n.-157-1220G>C
ENST00000550419.5:c.523-161G>C	ENSP00000448098.1:n.523-161G>C
ENST00000551800.5:c.342G>C	ENSP00000449391.1:p.Gln114His
ENST00000551888.5:n.443-53G>C
ENST00000552254.5:c.564G>C	ENSP00000449179.1:p.Gln188His
ENST00000553237.5:c.*203G>C	ENSP00000448885.1:n.*203G>C
NM_000075.3:c.564G>C	NP_000066.1:p.Gln188His
NM_000075.4:c.564G>C MANE Select	NP_000066.1:p.Gln188His