This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CFTR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000389119.1:p.Asp343Glu
ENST00000426809.5:c.[1029T>A;1032C>T]

ENST00000426809.5:c.[1029T>A;1033T>C]

ENST00000426809.5:c.[1029T>A;1034T=]

ENST00000426809.5:c.[1029T>A;1035A=]

ENST00000426809.5:c.[1029T>A;1035A>G]

ENST00000426809.5:c.[1029T>A;1036C=]

ENST00000426809.5:c.[1029T>A;1038A>G]

ENST00000426809.5:c.[1029T>A;1041G>A]

ENST00000426809.5:c.[1029T>A;1043A=]

ENST00000426809.5:c.[1029T>A;1044A>G]

ENST00000426809.5:c.[1029T>A;1045G=]

ENST00000426809.5:c.[1029T>A;1047A=]

ENST00000426809.5:c.[1029T>A;1047A>G]

ENST00000426809.5:c.[1029T>A;1049A=]

ENST00000426809.5:c.[1029T>A;1050T>C]

ENST00000426809.5:c.[1029T>A;1050T=]

ENST00000426809.5:c.[1029T>A;1051A=]

ENST00000426809.5:c.[1029T>A;1053G>A]

ENST00000426809.5:c.[1029T>A;1054A=]

ENST00000426809.5:c.[1029T>A;1056A=]

ENST00000426809.5:c.[1029T>A;1056A>C]

ENST00000426809.5:c.[1029T>A;1056A>G]

ENST00000426809.5:c.[1029T>A;1056A>T]

ENST00000426809.5:c.[1029T>A;1057T>C]

ENST00000426809.5:c.[1029T>A;1058T=]

ENST00000426809.5:c.[1029T>A;1059G>A]

ENST00000426809.5:c.[1029T>A;1059G=]

ENST00000426809.5:c.[1029T>A;1060G=]

ENST00000426809.5:c.[1029T>A;1060_1061del...

ENST00000426809.5:c.[1029T>A;1061A=]

ENST00000426809.5:c.[1029T>A;1062A=]

ENST00000426809.5:c.[1029T>A;1062A>G]

ENST00000426809.5:c.[1029T>A;1063T=]

ENST00000426809.5:c.[1029T>A;1064A=]

ENST00000426809.5:c.[1029T>A;1065T>C]

ENST00000426809.5:c.[1029T>A;1066A=]

ENST00000426809.5:c.[1029T>A;1068C=]

ENST00000426809.5:c.[1029T>A;1068C>T]

ENST00000426809.5:c.[1029T>A;1069T>C]

ENST00000426809.5:c.[1029T>A;1069_1076del...

ENST00000426809.5:c.[1029T>A;1070T=]

ENST00000426809.5:c.[1029T>A;1071A=]

ENST00000426809.5:c.[1029T>A;1071A>G]

ENST00000426809.5:c.[1029T>A;1073C=]

ENST00000426809.5:c.[1029T>A;1074G>A]

ENST00000426809.5:c.[1029T>A;1074G>C]

ENST00000426809.5:c.[1029T>A;1074G=]

ENST00000426809.5:c.[1029T>A;1074G>T]

ENST00000426809.5:c.[1029T>A;1075A=]

ENST00000426809.5:c.[1029T>A;1077T>A]

ENST00000426809.5:c.[1029T>A;1077T>C]

ENST00000426809.5:c.[1029T>A;1077T>G]

ENST00000426809.5:c.[1029T>A;1078A=]

ENST00000426809.5:c.[1029T>A;1079C=]

ENST00000426809.5:c.[1029T>A;1080A>C]

ENST00000426809.5:c.[1029T>A;1080A>G]

ENST00000426809.5:c.[1029T>A;1080A>T]

ENST00000426809.5:c.[1029T>A;1083A>G]

ENST00000426809.5:c.[1029T>A;1085T=]

ENST00000426809.5:c.[1029T>A;1086A=]

ENST00000426809.5:c.[1029T>A;1086A>C]

ENST00000426809.5:c.[1029T>A;1086A>G]

ENST00000426809.5:c.[1029T>A;1086A>T]

ENST00000426809.5:c.[1029T>A;1086_1087del...

ENST00000426809.5:c.[1029T>A;1087G=]

ENST00000426809.5:c.[1029T>A;1088T=]

ENST00000426809.5:c.[1029T>A;1089G>A]

ENST00000426809.5:c.[1029T>A;1089G>C]

ENST00000426809.5:c.[1029T>A;1089G=]

ENST00000426809.5:c.[1029T>A;1089G>T]

ENST00000426809.5:c.[1029T>A;1091T=]

ENST00000426809.5:c.[1029T>A;1095G>A]

ENST00000426809.5:c.[1029T>A;1095G=]

ENST00000426809.5:c.[1029T>A;1096A=]

ENST00000426809.5:c.[1029T>A;1097A=]

ENST00000426809.5:c.[1029T>A;1098T>C]

ENST00000426809.5:c.[1029T>A;1098T=]

ENST00000426809.5:c.[1029T>A;1099G=]

ENST00000426809.5:c.[1029T>A;1100T=]

ENST00000426809.5:c.[1029T>A;1100dup;1102...

ENST00000426809.5:c.[1029T>A;1101A>C]

ENST00000426809.5:c.[1029T>A;1101A>G]

ENST00000426809.5:c.[1029T>A;1101A>T]

ENST00000426809.5:c.[1029T>A;1104A>C]

ENST00000426809.5:c.[1029T>A;1104A>G]

ENST00000426809.5:c.[1029T>A;1104A>T]

ENST00000426809.5:c.[1029T>A;1105_1106del...

ENST00000426809.5:c.[1029T>A;1106C=]

ENST00000426809.5:c.[1029T>A;1107C>A]

ENST00000426809.5:c.[1029T>A;1107C=]

ENST00000426809.5:c.[1029T>A;1107C>G]

ENST00000426809.5:c.[1029T>A;1107C>T]

ENST00000426809.5:c.[1029T>A;1109T=]

ENST00000426809.5:c.[1029T>A;1110C>T]

ENST00000426809.5:c.[1029T>G;1032C>T]

ENST00000426809.5:c.[1029T>G;1033T>C]

ENST00000426809.5:c.[1029T>G;1034T=]

ENST00000426809.5:c.[1029T>G;1035A=]

ENST00000426809.5:c.[1029T>G;1035A>G]

ENST00000426809.5:c.[1029T>G;1036C=]

ENST00000426809.5:c.[1029T>G;1038A>G]

ENST00000426809.5:c.[1029T>G;1041G>A]

ENST00000426809.5:c.[1029T>G;1043A=]

ENST00000426809.5:c.[1029T>G;1044A>G]

ENST00000426809.5:c.[1029T>G;1045G=]

ENST00000426809.5:c.[1029T>G;1047A=]

ENST00000426809.5:c.[1029T>G;1047A>G]

ENST00000426809.5:c.[1029T>G;1049A=]

ENST00000426809.5:c.[1029T>G;1050T>C]

ENST00000426809.5:c.[1029T>G;1050T=]

ENST00000426809.5:c.[1029T>G;1051A=]

ENST00000426809.5:c.[1029T>G;1053G>A]

ENST00000426809.5:c.[1029T>G;1054A=]

ENST00000426809.5:c.[1029T>G;1056A=]

ENST00000426809.5:c.[1029T>G;1056A>C]

ENST00000426809.5:c.[1029T>G;1056A>G]

ENST00000426809.5:c.[1029T>G;1056A>T]

ENST00000426809.5:c.[1029T>G;1057T>C]

ENST00000426809.5:c.[1029T>G;1058T=]

ENST00000426809.5:c.[1029T>G;1059G>A]

ENST00000426809.5:c.[1029T>G;1059G=]

ENST00000426809.5:c.[1029T>G;1060G=]

ENST00000426809.5:c.[1029T>G;1060_1061del...

ENST00000426809.5:c.[1029T>G;1061A=]

ENST00000426809.5:c.[1029T>G;1062A=]

ENST00000426809.5:c.[1029T>G;1062A>G]

ENST00000426809.5:c.[1029T>G;1063T=]

ENST00000426809.5:c.[1029T>G;1064A=]

ENST00000426809.5:c.[1029T>G;1065T>C]

ENST00000426809.5:c.[1029T>G;1066A=]

ENST00000426809.5:c.[1029T>G;1068C=]

ENST00000426809.5:c.[1029T>G;1068C>T]

ENST00000426809.5:c.[1029T>G;1069T>C]

ENST00000426809.5:c.[1029T>G;1069_1076del...

ENST00000426809.5:c.[1029T>G;1070T=]

ENST00000426809.5:c.[1029T>G;1071A=]

ENST00000426809.5:c.[1029T>G;1071A>G]

ENST00000426809.5:c.[1029T>G;1073C=]

ENST00000426809.5:c.[1029T>G;1074G>A]

ENST00000426809.5:c.[1029T>G;1074G>C]

ENST00000426809.5:c.[1029T>G;1074G=]

ENST00000426809.5:c.[1029T>G;1074G>T]

ENST00000426809.5:c.[1029T>G;1075A=]

ENST00000426809.5:c.[1029T>G;1077T>A]

ENST00000426809.5:c.[1029T>G;1077T>C]

ENST00000426809.5:c.[1029T>G;1077T>G]

ENST00000426809.5:c.[1029T>G;1078A=]

ENST00000426809.5:c.[1029T>G;1079C=]

ENST00000426809.5:c.[1029T>G;1080A>C]

ENST00000426809.5:c.[1029T>G;1080A>G]

ENST00000426809.5:c.[1029T>G;1080A>T]

ENST00000426809.5:c.[1029T>G;1083A>G]

ENST00000426809.5:c.[1029T>G;1085T=]

ENST00000426809.5:c.[1029T>G;1086A=]

ENST00000426809.5:c.[1029T>G;1086A>C]

ENST00000426809.5:c.[1029T>G;1086A>G]

ENST00000426809.5:c.[1029T>G;1086A>T]

ENST00000426809.5:c.[1029T>G;1086_1087del...

ENST00000426809.5:c.[1029T>G;1087G=]

ENST00000426809.5:c.[1029T>G;1088T=]

ENST00000426809.5:c.[1029T>G;1089G>A]

ENST00000426809.5:c.[1029T>G;1089G>C]

ENST00000426809.5:c.[1029T>G;1089G=]

ENST00000426809.5:c.[1029T>G;1089G>T]

ENST00000426809.5:c.[1029T>G;1091T=]

ENST00000426809.5:c.[1029T>G;1095G>A]

ENST00000426809.5:c.[1029T>G;1095G=]

ENST00000426809.5:c.[1029T>G;1096A=]

ENST00000426809.5:c.[1029T>G;1097A=]

ENST00000426809.5:c.[1029T>G;1098T>C]

ENST00000426809.5:c.[1029T>G;1098T=]

ENST00000426809.5:c.[1029T>G;1099G=]

ENST00000426809.5:c.[1029T>G;1100T=]

ENST00000426809.5:c.[1029T>G;1100dup;1102...

ENST00000426809.5:c.[1029T>G;1101A>C]

ENST00000426809.5:c.[1029T>G;1101A>G]

ENST00000426809.5:c.[1029T>G;1101A>T]

ENST00000426809.5:c.[1029T>G;1104A>C]

ENST00000426809.5:c.[1029T>G;1104A>G]

ENST00000426809.5:c.[1029T>G;1104A>T]

ENST00000426809.5:c.[1029T>G;1105_1106del...

ENST00000426809.5:c.[1029T>G;1106C=]

ENST00000426809.5:c.[1029T>G;1107C>A]

ENST00000426809.5:c.[1029T>G;1107C=]

ENST00000426809.5:c.[1029T>G;1107C>G]

ENST00000426809.5:c.[1029T>G;1107C>T]

ENST00000426809.5:c.[1029T>G;1109T=]

ENST00000426809.5:c.[1029T>G;1110C>T]