Canonical Allele Identifier: CA385548354

Gene: CDK4

Linked Data

• ClinVar Variation Id: 860259
• ClinVar RCV Id: RCV001066535
• dbSNP Id: rs1343218987
• gnomAD v2: 12-58145121-T-C
• gnomAD v4: 12-57751338-T-C
• MyVariant Identifiers: chr12:g.58145121T>C (hg19) ; chr12:g.57751338T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57751338T>C , CM000674.2:g.57751338T>C	GRCh38
NC_000012.11:g.58145121T>C , CM000674.1:g.58145121T>C	GRCh37
NC_000012.10:g.56431388T>C	NCBI36
NG_007484.2:g.6044A>G , LRG_490:g.6044A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.223A>G MANE Select	ENSP00000257904.5:p.Met75Val
ENST00000257904.10:c.223A>G	ENSP00000257904.5:p.Met75Val
ENST00000312990.10:c.223A>G	ENSP00000316889.6:p.Met75Val
ENST00000546489.5:c.1A>G	ENSP00000447779.1:p.Met1Val
ENST00000547281.5:c.1A>G	ENSP00000447274.1:p.Met1Val
ENST00000549606.5:c.-158+837A>G	ENSP00000447005.1:n.-158+837A>G
ENST00000550419.5:c.223A>G	ENSP00000448098.1:p.Met75Val
ENST00000551706.1:n.589A>G
ENST00000551800.5:c.1A>G	ENSP00000449391.1:p.Met1Val
ENST00000551888.5:n.401A>G
ENST00000552254.5:c.223A>G	ENSP00000449179.1:p.Met75Val
ENST00000552388.1:c.223A>G	ENSP00000448963.1:p.Met75Val
ENST00000552862.1:c.223A>G	ENSP00000446763.1:p.Met75Val
ENST00000553237.5:c.218+162A>G	ENSP00000448885.1:n.218+162A>G
NM_000075.3:c.223A>G	NP_000066.1:p.Met75Val
NM_000075.4:c.223A>G MANE Select	NP_000066.1:p.Met75Val