Canonical Allele Identifier: CA385546321

Gene: CDK4

Linked Data

• dbSNP Id: rs2140386429
• gnomAD v4: 12-57750973-C-A
• COSMIC: COSM5551665
• MyVariant Identifiers: chr12:g.58144756C>A (hg19) ; chr12:g.57750973C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750973C>A , CM000674.2:g.57750973C>A	GRCh38
NC_000012.11:g.58144756C>A , CM000674.1:g.58144756C>A	GRCh37
NC_000012.10:g.56431023C>A	NCBI36
NG_007484.2:g.6409G>T , LRG_490:g.6409G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.472G>T MANE Select	ENSP00000257904.5:p.Asp158Tyr
ENST00000257904.10:c.472G>T	ENSP00000257904.5:p.Asp158Tyr
ENST00000312990.10:c.265-302G>T	ENSP00000316889.6:n.265-302G>T
ENST00000546489.5:c.250G>T	ENSP00000447779.1:p.Asp84Tyr
ENST00000547281.5:c.250G>T	ENSP00000447274.1:p.Asp84Tyr
ENST00000549606.5:c.-158+1202G>T	ENSP00000447005.1:n.-158+1202G>T
ENST00000550419.5:c.472G>T	ENSP00000448098.1:p.Asp158Tyr
ENST00000551706.1:n.838G>T
ENST00000551800.5:c.250G>T	ENSP00000449391.1:p.Asp84Tyr
ENST00000551888.5:n.443-302G>T
ENST00000552254.5:c.472G>T	ENSP00000449179.1:p.Asp158Tyr
ENST00000552388.1:c.472G>T	ENSP00000448963.1:p.Asp158Tyr
ENST00000553237.5:c.*111G>T	ENSP00000448885.1:n.*111G>T
NM_000075.3:c.472G>T	NP_000066.1:p.Asp158Tyr
NM_000075.4:c.472G>T MANE Select	NP_000066.1:p.Asp158Tyr