Canonical Allele Identifier: CA126982
Gene: CDK4 HGNC NCBI

Linked Data

ClinVar Variation Id: 16928
ClinVar RCV Id: RCV000018436 RCV000168188 RCV000420489 RCV000426326 RCV000438126 RCV000484583 RCV000584153
dbSNP Id: rs11547328
ExAC: 12:58145431 G / A
gnomAD v2: 12-58145431-G-A
gnomAD v4: 12-57751648-G-A
COSMIC: COSM1677139
MyVariant Identifiers: chr12:g.58145431G>A (hg19) chr12:g.57751648G>A (hg38)
PubMed: PMID:7652577 PMID:8528263 PMID:9228064 PMID:22804906 PMID:23384855 PMID:26619011
CIViC: CA126982
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57751648G>A , CM000674.2:g.57751648G>A GRCh38
NC_000012.11:g.58145431G>A , CM000674.1:g.58145431G>A GRCh37
NC_000012.10:g.56431698G>A NCBI36
NG_007484.2:g.5734C>T , LRG_490:g.5734C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000257904.11:c.70C>T MANE Select ENSP00000257904.5:p.Arg24Cys
ENST00000257904.10:c.70C>T ENSP00000257904.5:p.Arg24Cys
ENST00000312990.10:c.70C>T ENSP00000316889.6:p.Arg24Cys
ENST00000546489.5:c.-4-306C>T ENSP00000447779.1:n.-4-306C>T
ENST00000547281.5:c.-153C>T ENSP00000447274.1:n.-153C>T
ENST00000549606.5:c.-158+527C>T ENSP00000447005.1:n.-158+527C>T
ENST00000550419.5:c.70C>T ENSP00000448098.1:p.Arg24Cys
ENST00000551706.1:n.279C>T
ENST00000551800.5:c.-153C>T ENSP00000449391.1:n.-153C>T
ENST00000551888.5:n.248C>T
ENST00000552254.5:c.70C>T ENSP00000449179.1:p.Arg24Cys
ENST00000552388.1:c.70C>T ENSP00000448963.1:p.Arg24Cys
ENST00000552862.1:c.70C>T ENSP00000446763.1:p.Arg24Cys
ENST00000553237.5:c.70C>T ENSP00000448885.1:p.Arg24Cys
NM_000075.3:c.70C>T NP_000066.1:p.Arg24Cys
NM_000075.4:c.70C>T MANE Select NP_000066.1:p.Arg24Cys
Search 100 bp 5'
Search 100 bp 3'