Canonical Allele Identifier: CA385545516

Gene: CDK4

Linked Data

• gnomAD v4: 12-57750657-T-C
• MyVariant Identifiers: chr12:g.58144440T>C (hg19) ; chr12:g.57750657T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750657T>C , CM000674.2:g.57750657T>C	GRCh38
NC_000012.11:g.58144440T>C , CM000674.1:g.58144440T>C	GRCh37
NC_000012.10:g.56430707T>C	NCBI36
NG_007484.2:g.6725A>G , LRG_490:g.6725A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.631A>G MANE Select	ENSP00000257904.5:p.Lys211Glu
ENST00000257904.10:c.631A>G	ENSP00000257904.5:p.Lys211Glu
ENST00000312990.10:c.279A>G	ENSP00000316889.6:p.Glu93=
ENST00000546489.5:c.409A>G	ENSP00000447779.1:p.Lys137Glu
ENST00000547281.5:c.409A>G	ENSP00000447274.1:p.Lys137Glu
ENST00000549606.5:c.-157-1153A>G	ENSP00000447005.1:n.-157-1153A>G
ENST00000550419.5:c.523-94A>G	ENSP00000448098.1:n.523-94A>G
ENST00000551888.5:n.457A>G
ENST00000553237.5:c.*270A>G	ENSP00000448885.1:n.*270A>G
NM_000075.3:c.631A>G	NP_000066.1:p.Lys211Glu
NM_000075.4:c.631A>G MANE Select	NP_000066.1:p.Lys211Glu