Linked Data
ClinVar Variation Id:
309969
ClinVar RCV Id:
RCV000393017
dbSNP Id:
rs112275916
gnomAD v2:
12-58141817-G-A
gnomAD v3:
12-57748034-G-A
gnomAD v4:
12-57748034-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57748034G>A , CM000674.2:g.57748034G>A | GRCh38 |
| NC_000012.11:g.58141817G>A , CM000674.1:g.58141817G>A | GRCh37 |
| NC_000012.10:g.56428084G>A | NCBI36 |
| NG_007484.2:g.9348C>T , LRG_490:g.9348C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.*491C>T (CDK4) MANE Select | ENSP00000257904.5:n.*491C>T | |
| ENST00000257910.8:c.*744G>A (TSPAN31) MANE Select | ENSP00000257910.3:n.*744G>A | |
| ENST00000257904.10:c.*491C>T (CDK4) | ENSP00000257904.5:n.*491C>T | |
| ENST00000257910.7:c.*744G>A (TSPAN31) | ENSP00000257910.3:n.*744G>A | |
| ENST00000312990.10:c.*715C>T (CDK4) | ENSP00000316889.6:n.*715C>T | |
| ENST00000546993.5:n.1855G>A (TSPAN31) | ||
| ENST00000547992.5:c.*744G>A (TSPAN31) | ENSP00000448209.1:n.*744G>A | |
| ENST00000550791.1:n.1934G>A (TSPAN31) | ||
| NM_000075.3:c.*491C>T (CDK4) | NP_000066.1:n.*491C>T | |
| NM_005981.3:c.*744G>A (TSPAN31) | NP_005972.1:n.*744G>A | |
| XM_005269074.2:c.*744G>A (TSPAN31) | XP_005269131.2:n.*744G>A | |
| NM_001330168.1:c.*744G>A (TSPAN31) | NP_001317097.1:n.*744G>A | |
| NM_001330169.1:c.*744G>A (TSPAN31) | NP_001317098.1:n.*744G>A | |
| NM_005981.4:c.*744G>A (TSPAN31) | NP_005972.1:n.*744G>A | |
| XM_024449123.1:c.*744G>A (TSPAN31) | XP_024304891.1:n.*744G>A | |
| NM_000075.4:c.*491C>T (CDK4) MANE Select | NP_000066.1:n.*491C>T | |
| NM_005981.5:c.*744G>A (TSPAN31) MANE Select | NP_005972.1:n.*744G>A | |
| NM_001330168.2:c.*744G>A (TSPAN31) | NP_001317097.1:n.*744G>A | |
| NM_001330169.2:c.*744G>A (TSPAN31) | NP_001317098.1:n.*744G>A |