Canonical Allele Identifier: CA385548808

Gene: CDK4

Linked Data

• ClinVar Variation Id: 1019806
• ClinVar RCV Id: RCV001319295
• dbSNP Id: rs1955238404
• gnomAD v3: 12-57751602-A-G
• gnomAD v4: 12-57751602-A-G
• MyVariant Identifiers: chr12:g.58145385A>G (hg19) ; chr12:g.57751602A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57751602A>G , CM000674.2:g.57751602A>G	GRCh38
NC_000012.11:g.58145385A>G , CM000674.1:g.58145385A>G	GRCh37
NC_000012.10:g.56431652A>G	NCBI36
NG_007484.2:g.5780T>C , LRG_490:g.5780T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.116T>C MANE Select	ENSP00000257904.5:p.Val39Ala
ENST00000257904.10:c.116T>C	ENSP00000257904.5:p.Val39Ala
ENST00000312990.10:c.116T>C	ENSP00000316889.6:p.Val39Ala
ENST00000546489.5:c.-4-260T>C	ENSP00000447779.1:n.-4-260T>C
ENST00000547281.5:c.-107T>C	ENSP00000447274.1:n.-107T>C
ENST00000549606.5:c.-158+573T>C	ENSP00000447005.1:n.-158+573T>C
ENST00000550419.5:c.116T>C	ENSP00000448098.1:p.Val39Ala
ENST00000551706.1:n.325T>C
ENST00000551800.5:c.-107T>C	ENSP00000449391.1:n.-107T>C
ENST00000551888.5:n.294T>C
ENST00000552254.5:c.116T>C	ENSP00000449179.1:p.Val39Ala
ENST00000552388.1:c.116T>C	ENSP00000448963.1:p.Val39Ala
ENST00000552862.1:c.116T>C	ENSP00000446763.1:p.Val39Ala
ENST00000553237.5:c.116T>C	ENSP00000448885.1:p.Val39Ala
NM_000075.3:c.116T>C	NP_000066.1:p.Val39Ala
NM_000075.4:c.116T>C MANE Select	NP_000066.1:p.Val39Ala