Linked Data
ClinVar Variation Id:
374000
dbSNP Id:
rs764841861
ExAC:
7:99801719 C / T
gnomAD v2:
7-99801719-C-T
gnomAD v3:
7-100204096-C-T
gnomAD v4:
7-100204096-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100204096C>T , CM000669.2:g.100204096C>T | GRCh38 |
| NC_000007.13:g.99801719C>T , CM000669.1:g.99801719C>T | GRCh37 |
| NC_000007.12:g.99639655C>T | NCBI36 |
| NG_034114.1:g.31373C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412190.6:c.*2208C>T (STAG3) | ENSP00000395039.2:n.*2208C>T | |
| ENST00000615138.5:c.2776C>T (STAG3) MANE Select | ENSP00000477973.1:p.Arg926Ter | |
| ENST00000620100.5:c.2602C>T (STAG3) | ENSP00000484098.1:p.Arg868Ter | |
| ENST00000649671.1:n.776-1493G>A (CASTOR3P) | ||
| ENST00000317296.9:c.2776C>T (STAG3) | ENSP00000319318.5:p.Arg926Ter | |
| ENST00000328453.9:c.*861-1493G>A (CASTOR3P) | ENSP00000482429.1:n.*861-1493G>A | |
| ENST00000394018.6:c.2602C>T (STAG3) | ENSP00000377586.2:p.Arg868Ter | |
| ENST00000414997.1:n.159-1493G>A (CASTOR3P) | ||
| ENST00000426455.5:c.2776C>T (STAG3) | ENSP00000400359.1:p.Arg926Ter | |
| ENST00000436886.6:c.*49-1493G>A (CASTOR3P) | ENSP00000389760.2:n.*49-1493G>A | |
| ENST00000437485.5:n.130-1493G>A (CASTOR3P) | ||
| ENST00000440058.5:n.192-1493G>A (CASTOR3P) | ||
| ENST00000440830.5:n.1851C>T (STAG3) | ||
| ENST00000454084.5:c.536-1493G>A (CASTOR3P) | ENSP00000479181.1:n.536-1493G>A | |
| ENST00000491498.5:n.1763C>T (STAG3) | ||
| ENST00000496157.5:n.2695-1213C>T (STAG3) | ||
| ENST00000543273.5:c.*173-1493G>A (CASTOR3P) | ENSP00000481377.1:n.*173-1493G>A | |
| ENST00000615138.4:c.2776C>T (STAG3) | ENSP00000477973.1:p.Arg926Ter | |
| ENST00000620100.4:c.2602C>T (STAG3) | ENSP00000484098.1:p.Arg868Ter | |
| NM_001282716.1:c.2776C>T (STAG3) | NP_001269645.1:p.Arg926Ter | |
| NM_001282717.1:c.2776C>T (STAG3) | NP_001269646.1:p.Arg926Ter | |
| NM_001282718.1:c.2602C>T (STAG3) | NP_001269647.1:p.Arg868Ter | |
| NM_012447.3:c.2776C>T (STAG3) | NP_036579.2:p.Arg926Ter | |
| NM_178831.6:c.*49-1493G>A (CASTOR3P) | NP_849153.3:n.*49-1493G>A | |
| NR_028039.1:n.1602-1493G>A (CASTOR3P) | ||
| NR_028040.1:n.914-1493G>A (CASTOR3P) | ||
| XM_005250116.1:c.2776C>T (STAG3) | XP_005250173.1:p.Arg926Ter | |
| XM_011515742.1:c.2776C>T (STAG3) | XP_011514044.1:p.Arg926Ter | |
| XM_011515743.1:c.2776C>T (STAG3) | XP_011514045.1:p.Arg926Ter | |
| XM_011515744.1:c.2494C>T (STAG3) | XP_011514046.1:p.Arg832Ter | |
| XM_011515745.1:c.1783C>T (STAG3) | XP_011514047.1:p.Arg595Ter | |
| XM_017011683.2:c.2776C>T (STAG3) | XP_016867172.1:p.Arg926Ter | |
| XM_017011684.1:c.2776C>T (STAG3) | XP_016867173.1:p.Arg926Ter | |
| XM_017011685.1:c.2776C>T (STAG3) | XP_016867174.1:p.Arg926Ter | |
| XM_017011686.2:c.2776C>T (STAG3) | XP_016867175.1:p.Arg926Ter | |
| XM_017011687.1:c.2602C>T (STAG3) | XP_016867176.1:p.Arg868Ter | |
| XM_017012154.1:c.647-1493G>A (CASTOR3P) | XP_016867643.1:n.647-1493G>A | |
| XM_017012155.1:c.623-1493G>A (CASTOR3P) | XP_016867644.1:n.623-1493G>A | |
| XM_017012156.1:c.536-15707G>A (CASTOR3P) | XP_016867645.1:n.536-15707G>A | |
| XM_017012157.1:c.536-1493G>A (CASTOR3P) | XP_016867646.1:n.536-1493G>A | |
| XR_001744710.1:n.1613-1493G>A (CASTOR3P) | ||
| XR_001744712.1:n.1043-1493G>A (CASTOR3P) | ||
| XR_001744713.1:n.1263-1493G>A (CASTOR3P) | ||
| XR_002956435.1:n.2696-1493G>A (CASTOR3P) | ||
| NM_001282717.2:c.2776C>T (STAG3) MANE Select | NP_001269646.1:p.Arg926Ter | |
| NM_001282718.2:c.2602C>T (STAG3) | NP_001269647.1:p.Arg868Ter | |
| NM_001375438.1:c.2776C>T (STAG3) | NP_001362367.1:p.Arg926Ter | |
| NM_012447.4:c.2776C>T (STAG3) | NP_036579.2:p.Arg926Ter | |
| NR_166147.1:n.763-1493G>A (CASTOR3P) |