Linked Data
ClinVar Variation Id:
1791142
dbSNP Id:
rs760934731
ExAC:
18:53128312 G / C
gnomAD v2:
18-53128312-G-C
gnomAD v3:
18-55461081-G-C
gnomAD v4:
18-55461081-G-C
ERepo:
CA8970612/MONDO:0012589/032
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.55461081G>C , CM000680.2:g.55461081G>C | GRCh38 |
| NC_000018.9:g.53128312G>C , CM000680.1:g.53128312G>C | GRCh37 |
| NC_000018.8:g.51279310G>C | NCBI36 |
| NG_011716.1:g.132549C>G | |
| NG_011716.2:g.179913C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354452.8:c.242C>G (TCF4) MANE Select | ENSP00000346440.3:p.Thr81Ser | |
| ENST00000635822.2:c.242C>G (TCF4) | ENSP00000490451.1:p.Thr81Ser | |
| ENST00000636400.2:c.170C>G (TCF4) | ENSP00000490006.1:p.Thr57Ser | |
| ENST00000636751.2:c.170C>G (TCF4) | ENSP00000489783.1:p.Thr57Ser | |
| ENST00000637115.2:c.*132C>G (TCF4) | ENSP00000490234.1:n.*132C>G | |
| ENST00000637239.2:n.309C>G (TCF4) | ||
| ENST00000638154.3:c.272C>G (TCF4) | ENSP00000490625.2:p.Thr91Ser | |
| ENST00000674598.1:n.712C>G (TCF4) | ||
| ENST00000674764.1:c.116C>G (TCF4) | ENSP00000502213.1:p.Thr39Ser | |
| ENST00000354452.7:c.242C>G (TCF4) | ENSP00000346440.3:p.Thr81Ser | |
| ENST00000356073.8:c.242C>G (TCF4) | ENSP00000348374.4:p.Thr81Ser | |
| ENST00000398339.5:c.548C>G (TCF4) | ENSP00000381382.1:p.Thr183Ser | |
| ENST00000537578.5:c.170C>G (TCF4) | ENSP00000440731.1:p.Thr57Ser | |
| ENST00000540999.5:c.170C>G (TCF4) | ENSP00000445202.1:p.Thr57Ser | |
| ENST00000543082.5:c.116C>G (TCF4) | ENSP00000439656.1:p.Thr39Ser | |
| ENST00000562543.5:c.242C>G (TCF4) | ENSP00000455450.1:p.Thr81Ser | |
| ENST00000562847.5:c.5C>G (TCF4) | ENSP00000454866.1:p.Thr2Ser | |
| ENST00000563686.5:n.97C>G (TCF4) | ||
| ENST00000563824.5:c.170C>G (TCF4) | ENSP00000457113.2:p.Thr57Ser | |
| ENST00000563888.6:c.170C>G (TCF4) | ENSP00000457747.3:p.Thr57Ser | |
| ENST00000564343.5:c.170C>G (TCF4) | ENSP00000454328.1:p.Thr57Ser | |
| ENST00000564403.6:c.242C>G (TCF4) | ENSP00000457263.1:p.Thr81Ser | |
| ENST00000564999.5:c.242C>G (TCF4) | ENSP00000457649.1:p.Thr81Ser | |
| ENST00000565018.6:c.170C>G (TCF4) | ENSP00000455984.2:p.Thr57Ser | |
| ENST00000565580.3:n.171C>G (TCF4) | ||
| ENST00000565908.6:c.170C>G (TCF4) | ENSP00000454584.2:p.Thr57Ser | |
| ENST00000566279.5:c.242C>G (TCF4) | ENSP00000456125.1:p.Thr81Ser | |
| ENST00000566286.5:c.236C>G (TCF4) | ENSP00000455418.2:p.Thr79Ser | |
| ENST00000566514.5:c.203C>G (TCF4) | ENSP00000456983.2:p.Thr68Ser | |
| ENST00000567880.5:c.242C>G (TCF4) | ENSP00000454366.1:p.Thr81Ser | |
| ENST00000568147.5:c.206C>G (TCF4) | ENSP00000455163.2:p.Thr69Ser | |
| ENST00000568169.5:c.254C>G (TCF4) | ENSP00000457392.1:p.Thr85Ser | |
| ENST00000568673.5:c.170C>G (TCF4) | ENSP00000455135.1:p.Thr57Ser | |
| ENST00000568740.5:c.170C>G (TCF4) | ENSP00000455346.1:p.Thr57Ser | |
| ENST00000569357.4:c.451C>G (TCF4) | ||
| ENST00000616053.4:c.170C>G (TCF4) | ENSP00000478549.1:p.Thr57Ser | |
| ENST00000625716.2:n.172C>G (TCF4) | ||
| ENST00000626425.2:c.170C>G (TCF4) | ENSP00000486111.1:p.Thr57Ser | |
| ENST00000626595.2:c.242C>G (TCF4) | ENSP00000487415.1:p.Thr81Ser | |
| ENST00000627136.2:n.216C>G (TCF4) | ||
| ENST00000627320.2:c.*172C>G (TCF4) | ENSP00000487557.1:n.*172C>G | |
| ENST00000627685.2:c.170C>G (TCF4) | ENSP00000487171.1:p.Thr57Ser | |
| ENST00000627784.2:c.242C>G (TCF4) | ENSP00000487150.1:p.Thr81Ser | |
| ENST00000629387.2:c.242C>G (TCF4) | ENSP00000486670.1:p.Thr81Ser | |
| ENST00000630319.2:c.74-57563C>G (TCF4) | ENSP00000486215.1:n.74-57563C>G | |
| NM_001083962.1:c.242C>G (TCF4) | NP_001077431.1:p.Thr81Ser | |
| NM_001243226.2:c.548C>G (TCF4) | NP_001230155.2:p.Thr183Ser | |
| NM_001243227.1:c.170C>G (TCF4) | NP_001230156.1:p.Thr57Ser | |
| NM_001243228.1:c.242C>G (TCF4) | NP_001230157.1:p.Thr81Ser | |
| NM_001243230.1:c.236C>G (TCF4) | NP_001230159.1:p.Thr79Ser | |
| NM_001243231.1:c.116C>G (TCF4) | NP_001230160.1:p.Thr39Ser | |
| NM_001306207.1:c.170C>G (TCF4) | NP_001293136.1:p.Thr57Ser | |
| NM_003199.2:c.242C>G (TCF4) | NP_003190.1:p.Thr81Ser | |
| NR_132985.1:n.178+8371G>C (TCF4-AS1) | ||
| XM_005266739.3:c.170C>G (TCF4) | XP_005266796.2:p.Thr57Ser | |
| XM_005266741.3:c.242C>G (TCF4) | XP_005266798.1:p.Thr81Ser | |
| XM_005266743.3:c.170C>G (TCF4) | XP_005266800.1:p.Thr57Ser | |
| XM_005266744.3:c.170C>G (TCF4) | XP_005266801.1:p.Thr57Ser | |
| XM_005266745.3:c.170C>G (TCF4) | XP_005266802.1:p.Thr57Ser | |
| XM_005266747.3:c.116C>G (TCF4) | XP_005266804.1:p.Thr39Ser | |
| XM_006722536.2:c.242C>G (TCF4) | XP_006722599.1:p.Thr81Ser | |
| XM_006722537.2:c.242C>G (TCF4) | XP_006722600.1:p.Thr81Ser | |
| XM_006722538.2:c.170C>G (TCF4) | XP_006722601.1:p.Thr57Ser | |
| XM_011526154.1:c.548C>G (TCF4) | XP_011524456.1:p.Thr183Ser | |
| XM_011526155.1:c.548C>G (TCF4) | XP_011524457.1:p.Thr183Ser | |
| XM_011526156.1:c.548C>G (TCF4) | XP_011524458.1:p.Thr183Ser | |
| XM_011526157.1:c.548C>G (TCF4) | XP_011524459.1:p.Thr183Ser | |
| XM_011526158.1:c.236C>G (TCF4) | XP_011524460.1:p.Thr79Ser | |
| NM_001330604.2:c.242C>G (TCF4) | NP_001317533.1:p.Thr81Ser | |
| NM_001348211.1:c.116C>G (TCF4) | NP_001335140.1:p.Thr39Ser | |
| NM_001348217.1:c.170C>G (TCF4) | NP_001335146.1:p.Thr57Ser | |
| NM_001348218.1:c.170C>G (TCF4) | NP_001335147.1:p.Thr57Ser | |
| NM_001348219.1:c.170C>G (TCF4) | NP_001335148.1:p.Thr57Ser | |
| NM_001348220.1:c.170C>G (TCF4) | NP_001335149.1:p.Thr57Ser | |
| XM_005266739.4:c.170C>G (TCF4) | XP_005266796.2:p.Thr57Ser | |
| XM_005266741.4:c.242C>G (TCF4) | XP_005266798.1:p.Thr81Ser | |
| XM_005266745.4:c.170C>G (TCF4) | XP_005266802.1:p.Thr57Ser | |
| XM_006722536.3:c.242C>G (TCF4) | XP_006722599.1:p.Thr81Ser | |
| XM_006722537.3:c.242C>G (TCF4) | XP_006722600.1:p.Thr81Ser | |
| XM_006722538.3:c.170C>G (TCF4) | XP_006722601.1:p.Thr57Ser | |
| XM_017025934.2:c.170C>G (TCF4) | XP_016881423.1:p.Thr57Ser | |
| XM_017025935.2:c.170C>G (TCF4) | XP_016881424.1:p.Thr57Ser | |
| XM_017025936.2:c.170C>G (TCF4) | XP_016881425.1:p.Thr57Ser | |
| XM_017025937.2:c.170C>G (TCF4) | XP_016881426.1:p.Thr57Ser | |
| XM_017025938.2:c.242C>G (TCF4) | XP_016881427.1:p.Thr81Ser | |
| XM_017025940.2:c.242C>G (TCF4) | XP_016881429.1:p.Thr81Ser | |
| XM_017025941.2:c.242C>G (TCF4) | XP_016881430.1:p.Thr81Ser | |
| XM_017025942.2:c.242C>G (TCF4) | XP_016881431.1:p.Thr81Ser | |
| XM_017025943.2:c.242C>G (TCF4) | XP_016881432.1:p.Thr81Ser | |
| XM_017025944.2:c.170C>G (TCF4) | XP_016881433.1:p.Thr57Ser | |
| XM_017025945.2:c.170C>G (TCF4) | XP_016881434.1:p.Thr57Ser | |
| XM_017025946.2:c.170C>G (TCF4) | XP_016881435.1:p.Thr57Ser | |
| XM_017025948.2:c.170C>G (TCF4) | XP_016881437.1:p.Thr57Ser | |
| XM_017025950.2:c.170C>G (TCF4) | XP_016881439.1:p.Thr57Ser | |
| XM_017025951.2:c.116C>G (TCF4) | XP_016881440.1:p.Thr39Ser | |
| XM_024451240.1:c.170C>G (TCF4) | XP_024307008.1:p.Thr57Ser | |
| XM_024451241.1:c.5C>G (TCF4) | XP_024307009.1:p.Thr2Ser | |
| NM_001083962.2:c.242C>G (TCF4) MANE Select | NP_001077431.1:p.Thr81Ser | |
| NM_001243226.3:c.548C>G (TCF4) | NP_001230155.2:p.Thr183Ser | |
| NM_001243227.2:c.170C>G (TCF4) | NP_001230156.1:p.Thr57Ser | |
| NM_001243228.2:c.242C>G (TCF4) | NP_001230157.1:p.Thr81Ser | |
| NM_001243231.2:c.116C>G (TCF4) | NP_001230160.1:p.Thr39Ser | |
| NM_001330604.3:c.242C>G (TCF4) | NP_001317533.1:p.Thr81Ser | |
| NM_001348211.2:c.116C>G (TCF4) | NP_001335140.1:p.Thr39Ser | |
| NM_001348218.2:c.170C>G (TCF4) | NP_001335147.1:p.Thr57Ser | |
| NM_001348219.2:c.170C>G (TCF4) | NP_001335148.1:p.Thr57Ser | |
| NM_001369567.1:c.242C>G (TCF4) | NP_001356496.1:p.Thr81Ser | |
| NM_001369568.1:c.242C>G (TCF4) | NP_001356497.1:p.Thr81Ser | |
| NM_001369569.1:c.242C>G (TCF4) | NP_001356498.1:p.Thr81Ser | |
| NM_001369570.1:c.242C>G (TCF4) | NP_001356499.1:p.Thr81Ser | |
| NM_001369571.1:c.242C>G (TCF4) | NP_001356500.1:p.Thr81Ser | |
| NM_001369572.1:c.242C>G (TCF4) | NP_001356501.1:p.Thr81Ser | |
| NM_001369573.1:c.242C>G (TCF4) | NP_001356502.1:p.Thr81Ser | |
| NM_001369574.1:c.242C>G (TCF4) | NP_001356503.1:p.Thr81Ser | |
| NM_001369575.1:c.170C>G (TCF4) | NP_001356504.1:p.Thr57Ser | |
| NM_001369576.1:c.170C>G (TCF4) | NP_001356505.1:p.Thr57Ser | |
| NM_001369577.1:c.170C>G (TCF4) | NP_001356506.1:p.Thr57Ser | |
| NM_001369578.1:c.170C>G (TCF4) | NP_001356507.1:p.Thr57Ser | |
| NM_001369579.1:c.170C>G (TCF4) | NP_001356508.1:p.Thr57Ser | |
| NM_001369580.1:c.170C>G (TCF4) | NP_001356509.1:p.Thr57Ser | |
| NM_001369581.1:c.170C>G (TCF4) | NP_001356510.1:p.Thr57Ser | |
| NM_001369582.1:c.170C>G (TCF4) | NP_001356511.1:p.Thr57Ser | |
| NM_001369583.1:c.170C>G (TCF4) | NP_001356512.1:p.Thr57Ser | |
| NM_001369584.1:c.170C>G (TCF4) | NP_001356513.1:p.Thr57Ser | |
| NM_001369585.1:c.170C>G (TCF4) | NP_001356514.1:p.Thr57Ser | |
| NM_001369586.1:c.170C>G (TCF4) | NP_001356515.1:p.Thr57Ser | |
| NM_003199.3:c.242C>G (TCF4) | NP_003190.1:p.Thr81Ser | |
| NM_001243230.2:c.236C>G (TCF4) | NP_001230159.1:p.Thr79Ser |