Canonical Allele Identifier: CA237844101

Gene: CDK4

Linked Data

• ClinVar Variation Id: 1077907
• ClinVar RCV Id: RCV001392634 ; RCV002368239
• dbSNP Id: rs1012477745
• gnomAD v4: 12-57750658-T-G
• MyVariant Identifiers: chr12:g.58144441T>G (hg19) ; chr12:g.57750658T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750658T>G , CM000674.2:g.57750658T>G	GRCh38
NC_000012.11:g.58144441T>G , CM000674.1:g.58144441T>G	GRCh37
NC_000012.10:g.56430708T>G	NCBI36
NG_007484.2:g.6724A>C , LRG_490:g.6724A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.630A>C MANE Select	ENSP00000257904.5:p.Arg210=
ENST00000257904.10:c.630A>C	ENSP00000257904.5:p.Arg210=
ENST00000312990.10:c.278A>C	ENSP00000316889.6:p.Glu93Ala
ENST00000546489.5:c.408A>C	ENSP00000447779.1:p.Arg136=
ENST00000547281.5:c.408A>C	ENSP00000447274.1:p.Arg136=
ENST00000549606.5:c.-157-1154A>C	ENSP00000447005.1:n.-157-1154A>C
ENST00000550419.5:c.523-95A>C	ENSP00000448098.1:n.523-95A>C
ENST00000551888.5:n.456A>C
ENST00000553237.5:c.*269A>C	ENSP00000448885.1:n.*269A>C
NM_000075.3:c.630A>C	NP_000066.1:p.Arg210=
NM_000075.4:c.630A>C MANE Select	NP_000066.1:p.Arg210=