WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.71451250G>A | CA2954781 | SLC4A4 | c.1367G>A (p.Gly456Asp) c.1271G>A (p.Gly424Asp) c.1139G>A (p.Gly380Asp) n.1200G>A c.713G>A (p.Gly238Asp) c.1046G>A (p.Gly349Asp) c.755G>A (p.Gly252Asp) c.1364G>A (p.Gly455Asp) c.1286G>A (p.Gly429Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.71451250G>C | CA357418374 | SLC4A4 | c.1367G>C (p.Gly456Ala) c.1271G>C (p.Gly424Ala) c.1139G>C (p.Gly380Ala) n.1200G>C c.713G>C (p.Gly238Ala) c.1046G>C (p.Gly349Ala) c.755G>C (p.Gly252Ala) c.1364G>C (p.Gly455Ala) c.1286G>C (p.Gly429Ala) | gnomAD v4 |
| 4 | g.71451250G= | CA1467213337 | SLC4A4 | c.1367G= (p.Gly456=) c.1271G= (p.Gly424=) c.1139G= (p.Gly380=) n.1200G= c.713G= (p.Gly238=) c.1046G= (p.Gly349=) c.755G= (p.Gly252=) c.1364G= (p.Gly455=) c.1286G= (p.Gly429=) | |
| 4 | g.71451250G>T | CA357418373 | SLC4A4 | c.1367G>T (p.Gly456Val) c.1271G>T (p.Gly424Val) c.1139G>T (p.Gly380Val) n.1200G>T c.713G>T (p.Gly238Val) c.1046G>T (p.Gly349Val) c.755G>T (p.Gly252Val) c.1364G>T (p.Gly455Val) c.1286G>T (p.Gly429Val) | |
| 4 | g.71451251T>A | CA439875643 | SLC4A4 | c.1368T>A (p.Gly456=) c.1272T>A (p.Gly424=) c.1140T>A (p.Gly380=) n.1201T>A c.714T>A (p.Gly238=) c.1047T>A (p.Gly349=) c.756T>A (p.Gly252=) c.1365T>A (p.Gly455=) c.1287T>A (p.Gly429=) | |
| 4 | g.71451251T>C | CA439875644 | SLC4A4 | c.1368T>C (p.Gly456=) c.1272T>C (p.Gly424=) c.1140T>C (p.Gly380=) n.1201T>C c.714T>C (p.Gly238=) c.1047T>C (p.Gly349=) c.756T>C (p.Gly252=) c.1365T>C (p.Gly455=) c.1287T>C (p.Gly429=) | |
| 4 | g.71451251T>G | CA439875645 | SLC4A4 | c.1368T>G (p.Gly456=) c.1272T>G (p.Gly424=) c.1140T>G (p.Gly380=) n.1201T>G c.714T>G (p.Gly238=) c.1047T>G (p.Gly349=) c.756T>G (p.Gly252=) c.1365T>G (p.Gly455=) c.1287T>G (p.Gly429=) | |
| 4 | g.71451252C>A | CA357418377 | SLC4A4 | c.1369C>A (p.His457Asn) c.1273C>A (p.His425Asn) c.1141C>A (p.His381Asn) n.1202C>A c.715C>A (p.His239Asn) c.1048C>A (p.His350Asn) c.757C>A (p.His253Asn) c.1366C>A (p.His456Asn) c.1288C>A (p.His430Asn) | |
| 4 | g.71451252C>G | CA357418375 | SLC4A4 | c.1369C>G (p.His457Asp) c.1273C>G (p.His425Asp) c.1141C>G (p.His381Asp) n.1202C>G c.715C>G (p.His239Asp) c.1048C>G (p.His350Asp) c.757C>G (p.His253Asp) c.1366C>G (p.His456Asp) c.1288C>G (p.His430Asp) | |
| 4 | g.71451252C>T | CA357418376 | SLC4A4 | c.1369C>T (p.His457Tyr) c.1273C>T (p.His425Tyr) c.1141C>T (p.His381Tyr) n.1202C>T c.715C>T (p.His239Tyr) c.1048C>T (p.His350Tyr) c.757C>T (p.His253Tyr) c.1366C>T (p.His456Tyr) c.1288C>T (p.His430Tyr) | |
| 4 | g.71451253A>C | CA357418378 | SLC4A4 | c.1370A>C (p.His457Pro) c.1274A>C (p.His425Pro) c.1142A>C (p.His381Pro) n.1203A>C c.716A>C (p.His239Pro) c.1049A>C (p.His350Pro) c.758A>C (p.His253Pro) c.1367A>C (p.His456Pro) c.1289A>C (p.His430Pro) | |
| 4 | g.71451253A>G | CA357418379 | SLC4A4 | c.1370A>G (p.His457Arg) c.1274A>G (p.His425Arg) c.1142A>G (p.His381Arg) n.1203A>G c.716A>G (p.His239Arg) c.1049A>G (p.His350Arg) c.758A>G (p.His253Arg) c.1367A>G (p.His456Arg) c.1289A>G (p.His430Arg) | |
| 4 | g.71451253A>T | CA357418380 | SLC4A4 | c.1370A>T (p.His457Leu) c.1274A>T (p.His425Leu) c.1142A>T (p.His381Leu) n.1203A>T c.716A>T (p.His239Leu) c.1049A>T (p.His350Leu) c.758A>T (p.His253Leu) c.1367A>T (p.His456Leu) c.1289A>T (p.His430Leu) | |
| 4 | g.71451254C>A | CA357418382 | SLC4A4 | c.1371C>A (p.His457Gln) c.1275C>A (p.His425Gln) c.1143C>A (p.His381Gln) n.1204C>A c.717C>A (p.His239Gln) c.1050C>A (p.His350Gln) c.759C>A (p.His253Gln) c.1368C>A (p.His456Gln) c.1290C>A (p.His430Gln) | |
| 4 | g.71451254C= | CA1467213349 | SLC4A4 | c.1371C= (p.His457=) c.1275C= (p.His425=) c.1143C= (p.His381=) n.1204C= c.717C= (p.His239=) c.1050C= (p.His350=) c.759C= (p.His253=) c.1368C= (p.His456=) c.1290C= (p.His430=) | |
| 4 | g.71451254C>G | CA357418381 | SLC4A4 | c.1371C>G (p.His457Gln) c.1275C>G (p.His425Gln) c.1143C>G (p.His381Gln) n.1204C>G c.717C>G (p.His239Gln) c.1050C>G (p.His350Gln) c.759C>G (p.His253Gln) c.1368C>G (p.His456Gln) c.1290C>G (p.His430Gln) | |
| 4 | g.71451254C>T | CA2954782 | SLC4A4 | c.1371C>T (p.His457=) c.1275C>T (p.His425=) c.1143C>T (p.His381=) n.1204C>T c.717C>T (p.His239=) c.1050C>T (p.His350=) c.759C>T (p.His253=) c.1368C>T (p.His456=) c.1290C>T (p.His430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71451254_71451257delinsCGGA | CA1467213352 | SLC4A4 | c.1371_1374delinsCGGA (p.His457=) c.1275_1278delinsCGGA (p.His425=) c.1143_1146delinsCGGA (p.His381=) n.1204_1207delinsCGGA c.717_720delinsCGGA (p.His239=) c.1050_1053delinsCGGA (p.His350=) c.759_762delinsCGGA (p.His253=) c.1368_1371delinsCGGA (p.His456=) c.1290_1293delinsCGGA (p.His430=) | |
| 4 | g.71451255G>A | CA2954783 | SLC4A4 | c.1372G>A (p.Gly458Arg) c.1276G>A (p.Gly426Arg) c.1144G>A (p.Gly382Arg) n.1205G>A c.718G>A (p.Gly240Arg) c.1051G>A (p.Gly351Arg) c.760G>A (p.Gly254Arg) c.1369G>A (p.Gly457Arg) c.1291G>A (p.Gly431Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.71451255G>C | CA357418383 | SLC4A4 | c.1372G>C (p.Gly458Arg) c.1276G>C (p.Gly426Arg) c.1144G>C (p.Gly382Arg) n.1205G>C c.718G>C (p.Gly240Arg) c.1051G>C (p.Gly351Arg) c.760G>C (p.Gly254Arg) c.1369G>C (p.Gly457Arg) c.1291G>C (p.Gly431Arg) | |
| 4 | g.71451255G= | CA1467213370 | SLC4A4 | c.1372G= (p.Gly458=) c.1276G= (p.Gly426=) c.1144G= (p.Gly382=) n.1205G= c.718G= (p.Gly240=) c.1051G= (p.Gly351=) c.760G= (p.Gly254=) c.1369G= (p.Gly457=) c.1291G= (p.Gly431=) | |
| 4 | g.71451255G>T | CA357418384 | SLC4A4 | c.1372G>T (p.Gly458Ter) c.1276G>T (p.Gly426Ter) c.1144G>T (p.Gly382Ter) n.1205G>T c.718G>T (p.Gly240Ter) c.1051G>T (p.Gly351Ter) c.760G>T (p.Gly254Ter) c.1369G>T (p.Gly457Ter) c.1291G>T (p.Gly431Ter) | gnomAD v4 |
| 4 | g.71451264_71451266del | CA917223308 | SLC4A4 | c.1381_1383del (p.Gly461del) c.1285_1287del (p.Gly429del) c.1153_1155del (p.Gly385del) n.1214_1216del c.727_729del (p.Gly243del) c.1060_1062del (p.Gly354del) c.769_771del (p.Gly257del) c.1378_1380del (p.Gly460del) c.1300_1302del (p.Gly434del) | dbSNP gnomAD v4 |
| 4 | g.71451256G>A | CA357418385 | SLC4A4 | c.1373G>A (p.Gly458Glu) c.1277G>A (p.Gly426Glu) c.1145G>A (p.Gly382Glu) n.1206G>A c.719G>A (p.Gly240Glu) c.1052G>A (p.Gly351Glu) c.761G>A (p.Gly254Glu) c.1370G>A (p.Gly457Glu) c.1292G>A (p.Gly431Glu) | |
| 4 | g.71451256G>C | CA357418386 | SLC4A4 | c.1373G>C (p.Gly458Ala) c.1277G>C (p.Gly426Ala) c.1145G>C (p.Gly382Ala) n.1206G>C c.719G>C (p.Gly240Ala) c.1052G>C (p.Gly351Ala) c.761G>C (p.Gly254Ala) c.1370G>C (p.Gly457Ala) c.1292G>C (p.Gly431Ala) | |
| 4 | g.71451256G>T | CA357418387 | SLC4A4 | c.1373G>T (p.Gly458Val) c.1277G>T (p.Gly426Val) c.1145G>T (p.Gly382Val) n.1206G>T c.719G>T (p.Gly240Val) c.1052G>T (p.Gly351Val) c.761G>T (p.Gly254Val) c.1370G>T (p.Gly457Val) c.1292G>T (p.Gly431Val) | |
| 4 | g.71451257A>C | CA439875646 | SLC4A4 | c.1374A>C (p.Gly458=) c.1278A>C (p.Gly426=) c.1146A>C (p.Gly382=) n.1207A>C c.720A>C (p.Gly240=) c.1053A>C (p.Gly351=) c.762A>C (p.Gly254=) c.1371A>C (p.Gly457=) c.1293A>C (p.Gly431=) | |
| 4 | g.71451257A>G | CA439875647 | SLC4A4 | c.1374A>G (p.Gly458=) c.1278A>G (p.Gly426=) c.1146A>G (p.Gly382=) n.1207A>G c.720A>G (p.Gly240=) c.1053A>G (p.Gly351=) c.762A>G (p.Gly254=) c.1371A>G (p.Gly457=) c.1293A>G (p.Gly431=) | |
| 4 | g.71451257A>T | CA439875648 | SLC4A4 | c.1374A>T (p.Gly458=) c.1278A>T (p.Gly426=) c.1146A>T (p.Gly382=) n.1207A>T c.720A>T (p.Gly240=) c.1053A>T (p.Gly351=) c.762A>T (p.Gly254=) c.1371A>T (p.Gly457=) c.1293A>T (p.Gly431=) | |
| 4 | g.71451258G>A | CA357418388 | SLC4A4 | c.1375G>A (p.Gly459Arg) c.1279G>A (p.Gly427Arg) c.1147G>A (p.Gly383Arg) n.1208G>A c.721G>A (p.Gly241Arg) c.1054G>A (p.Gly352Arg) c.763G>A (p.Gly255Arg) c.1372G>A (p.Gly458Arg) c.1294G>A (p.Gly432Arg) | |
| 4 | g.71451258G>C | CA357418390 | SLC4A4 | c.1375G>C (p.Gly459Arg) c.1279G>C (p.Gly427Arg) c.1147G>C (p.Gly383Arg) n.1208G>C c.721G>C (p.Gly241Arg) c.1054G>C (p.Gly352Arg) c.763G>C (p.Gly255Arg) c.1372G>C (p.Gly458Arg) c.1294G>C (p.Gly432Arg) | |
| 4 | g.71451258G>T | CA357418389 | SLC4A4 | c.1375G>T (p.Gly459Ter) c.1279G>T (p.Gly427Ter) c.1147G>T (p.Gly383Ter) n.1208G>T c.721G>T (p.Gly241Ter) c.1054G>T (p.Gly352Ter) c.763G>T (p.Gly255Ter) c.1372G>T (p.Gly458Ter) c.1294G>T (p.Gly432Ter) | |
| 4 | g.71451259G>A | CA357418391 | SLC4A4 | c.1376G>A (p.Gly459Glu) c.1280G>A (p.Gly427Glu) c.1148G>A (p.Gly383Glu) n.1209G>A c.722G>A (p.Gly241Glu) c.1055G>A (p.Gly352Glu) c.764G>A (p.Gly255Glu) c.1373G>A (p.Gly458Glu) c.1295G>A (p.Gly432Glu) | dbSNP COSMIC COSMIC |
| 4 | g.71451259G>C | CA357418392 | SLC4A4 | c.1376G>C (p.Gly459Ala) c.1280G>C (p.Gly427Ala) c.1148G>C (p.Gly383Ala) n.1209G>C c.722G>C (p.Gly241Ala) c.1055G>C (p.Gly352Ala) c.764G>C (p.Gly255Ala) c.1373G>C (p.Gly458Ala) c.1295G>C (p.Gly432Ala) | |
| 4 | g.71451259G>T | CA357418393 | SLC4A4 | c.1376G>T (p.Gly459Val) c.1280G>T (p.Gly427Val) c.1148G>T (p.Gly383Val) n.1209G>T c.722G>T (p.Gly241Val) c.1055G>T (p.Gly352Val) c.764G>T (p.Gly255Val) c.1373G>T (p.Gly458Val) c.1295G>T (p.Gly432Val) | |
| 4 | g.71451260A>C | CA439875649 | SLC4A4 | c.1377A>C (p.Gly459=) c.1281A>C (p.Gly427=) c.1149A>C (p.Gly383=) n.1210A>C c.723A>C (p.Gly241=) c.1056A>C (p.Gly352=) c.765A>C (p.Gly255=) c.1374A>C (p.Gly458=) c.1296A>C (p.Gly432=) | |
| 4 | g.71451260A>G | CA439875650 | SLC4A4 | c.1377A>G (p.Gly459=) c.1281A>G (p.Gly427=) c.1149A>G (p.Gly383=) n.1210A>G c.723A>G (p.Gly241=) c.1056A>G (p.Gly352=) c.765A>G (p.Gly255=) c.1374A>G (p.Gly458=) c.1296A>G (p.Gly432=) | |
| 4 | g.71451260A>T | CA439875651 | SLC4A4 | c.1377A>T (p.Gly459=) c.1281A>T (p.Gly427=) c.1149A>T (p.Gly383=) n.1210A>T c.723A>T (p.Gly241=) c.1056A>T (p.Gly352=) c.765A>T (p.Gly255=) c.1374A>T (p.Gly458=) c.1296A>T (p.Gly432=) | |
| 4 | g.71451261G>A | CA357418394 | SLC4A4 | c.1378G>A (p.Gly460Arg) c.1282G>A (p.Gly428Arg) c.1150G>A (p.Gly384Arg) n.1211G>A c.724G>A (p.Gly242Arg) c.1057G>A (p.Gly353Arg) c.766G>A (p.Gly256Arg) c.1375G>A (p.Gly459Arg) c.1297G>A (p.Gly433Arg) | |
| 4 | g.71451261G>C | CA357418395 | SLC4A4 | c.1378G>C (p.Gly460Arg) c.1282G>C (p.Gly428Arg) c.1150G>C (p.Gly384Arg) n.1211G>C c.724G>C (p.Gly242Arg) c.1057G>C (p.Gly353Arg) c.766G>C (p.Gly256Arg) c.1375G>C (p.Gly459Arg) c.1297G>C (p.Gly433Arg) | |
| 4 | g.71451261G>T | CA357418396 | SLC4A4 | c.1378G>T (p.Gly460Ter) c.1282G>T (p.Gly428Ter) c.1150G>T (p.Gly384Ter) n.1211G>T c.724G>T (p.Gly242Ter) c.1057G>T (p.Gly353Ter) c.766G>T (p.Gly256Ter) c.1375G>T (p.Gly459Ter) c.1297G>T (p.Gly433Ter) | |
| 4 | g.71451262G>A | CA357418397 | SLC4A4 | c.1379G>A (p.Gly460Glu) c.1283G>A (p.Gly428Glu) c.1151G>A (p.Gly384Glu) n.1212G>A c.725G>A (p.Gly242Glu) c.1058G>A (p.Gly353Glu) c.767G>A (p.Gly256Glu) c.1376G>A (p.Gly459Glu) c.1298G>A (p.Gly433Glu) | |
| 4 | g.71451262G>C | CA357418398 | SLC4A4 | c.1379G>C (p.Gly460Ala) c.1283G>C (p.Gly428Ala) c.1151G>C (p.Gly384Ala) n.1212G>C c.725G>C (p.Gly242Ala) c.1058G>C (p.Gly353Ala) c.767G>C (p.Gly256Ala) c.1376G>C (p.Gly459Ala) c.1298G>C (p.Gly433Ala) | |
| 4 | g.71451262G>T | CA357418399 | SLC4A4 | c.1379G>T (p.Gly460Val) c.1283G>T (p.Gly428Val) c.1151G>T (p.Gly384Val) n.1212G>T c.725G>T (p.Gly242Val) c.1058G>T (p.Gly353Val) c.767G>T (p.Gly256Val) c.1376G>T (p.Gly459Val) c.1298G>T (p.Gly433Val) | |
| 4 | g.71451263A= | CA1467213375 | SLC4A4 | c.1380A= (p.Gly460=) c.1284A= (p.Gly428=) c.1152A= (p.Gly384=) n.1213A= c.726A= (p.Gly242=) c.1059A= (p.Gly353=) c.768A= (p.Gly256=) c.1377A= (p.Gly459=) c.1299A= (p.Gly433=) | |
| 4 | g.71451263A>C | CA439875654 | SLC4A4 | c.1380A>C (p.Gly460=) c.1284A>C (p.Gly428=) c.1152A>C (p.Gly384=) n.1213A>C c.726A>C (p.Gly242=) c.1059A>C (p.Gly353=) c.768A>C (p.Gly256=) c.1377A>C (p.Gly459=) c.1299A>C (p.Gly433=) | |
| 4 | g.71451263A>G | CA439875653 | SLC4A4 | c.1380A>G (p.Gly460=) c.1284A>G (p.Gly428=) c.1152A>G (p.Gly384=) n.1213A>G c.726A>G (p.Gly242=) c.1059A>G (p.Gly353=) c.768A>G (p.Gly256=) c.1377A>G (p.Gly459=) c.1299A>G (p.Gly433=) | |
| 4 | g.71451263A>T | CA439875652 | SLC4A4 | c.1380A>T (p.Gly460=) c.1284A>T (p.Gly428=) c.1152A>T (p.Gly384=) n.1213A>T c.726A>T (p.Gly242=) c.1059A>T (p.Gly353=) c.768A>T (p.Gly256=) c.1377A>T (p.Gly459=) c.1299A>T (p.Gly433=) | |
| 4 | g.71451264G>A | CA357418400 | SLC4A4 | c.1381G>A (p.Gly461Arg) c.1285G>A (p.Gly429Arg) c.1153G>A (p.Gly385Arg) n.1214G>A c.727G>A (p.Gly243Arg) c.1060G>A (p.Gly354Arg) c.769G>A (p.Gly257Arg) c.1378G>A (p.Gly460Arg) c.1300G>A (p.Gly434Arg) | gnomAD v4 |
| 4 | g.71451264G>C | CA357418401 | SLC4A4 | c.1381G>C (p.Gly461Arg) c.1285G>C (p.Gly429Arg) c.1153G>C (p.Gly385Arg) n.1214G>C c.727G>C (p.Gly243Arg) c.1060G>C (p.Gly354Arg) c.769G>C (p.Gly257Arg) c.1378G>C (p.Gly460Arg) c.1300G>C (p.Gly434Arg) |