Linked Data
ClinVar Variation Id:
387376
dbSNP Id:
rs773490152
ExAC:
12:58143260 G / A
gnomAD v2:
12-58143260-G-A
gnomAD v3:
12-57749477-G-A
gnomAD v4:
12-57749477-G-A
COSMIC:
COSM942198
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57749477G>A , CM000674.2:g.57749477G>A | GRCh38 |
| NC_000012.11:g.58143260G>A , CM000674.1:g.58143260G>A | GRCh37 |
| NC_000012.10:g.56429527G>A | NCBI36 |
| NG_007484.2:g.7905C>T , LRG_490:g.7905C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.660C>T (CDK4) MANE Select | ENSP00000257904.5:p.Ala220= | |
| ENST00000257910.8:c.*2187G>A (TSPAN31) MANE Select | ENSP00000257910.3:n.*2187G>A | |
| ENST00000257904.10:c.660C>T (CDK4) | ENSP00000257904.5:p.Ala220= | |
| ENST00000312990.10:c.308C>T (CDK4) | ENSP00000316889.6:p.Pro103Leu | |
| ENST00000546489.5:c.438C>T (CDK4) | ENSP00000447779.1:p.Ala146= | |
| ENST00000547281.5:c.438C>T (CDK4) | ENSP00000447274.1:p.Ala146= | |
| ENST00000547992.5:c.*2187G>A (TSPAN31) | ENSP00000448209.1:n.*2187G>A | |
| ENST00000549606.5:c.-130C>T (CDK4) | ENSP00000447005.1:n.-130C>T | |
| ENST00000550419.5:c.*66C>T (CDK4) | ENSP00000448098.1:n.*66C>T | |
| ENST00000551888.5:n.486C>T (CDK4) | ||
| ENST00000552713.5:n.319C>T (CDK4) | ||
| ENST00000553237.5:c.*299C>T (CDK4) | ENSP00000448885.1:n.*299C>T | |
| NM_000075.3:c.660C>T (CDK4) | NP_000066.1:p.Ala220= | |
| NM_000075.4:c.660C>T (CDK4) MANE Select | NP_000066.1:p.Ala220= | |
| NM_005981.5:c.*2187G>A (TSPAN31) MANE Select | NP_005972.1:n.*2187G>A | |
| NM_001330168.2:c.*2187G>A (TSPAN31) | NP_001317097.1:n.*2187G>A | |
| NM_001330169.2:c.*2187G>A (TSPAN31) | NP_001317098.1:n.*2187G>A |