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.Val892Glu
ENST00000426809.5:c.[2675T>A;2678C=]

ENST00000426809.5:c.[2675T>A;2679C>A]

ENST00000426809.5:c.[2675T>A;2679C=]

ENST00000426809.5:c.[2675T>A;2679C>G]

ENST00000426809.5:c.[2675T>A;2679C>T]

ENST00000426809.5:c.[2675T>A;2680G=]

ENST00000426809.5:c.[2675T>A;2682C=]

ENST00000426809.5:c.[2675T>A;2682C>T]

ENST00000426809.5:c.[2675T>A;2683A=]

ENST00000426809.5:c.[2675T>A;2684C=]

ENST00000426809.5:c.[2675T>A;2684_2686del...

ENST00000426809.5:c.[2675T>A;2684dup;2687...

ENST00000426809.5:c.[2675T>A;2685T>A]

ENST00000426809.5:c.[2675T>A;2685T>C]

ENST00000426809.5:c.[2675T>A;2685T>G]

ENST00000426809.5:c.[2675T>A;2686T>C]

ENST00000426809.5:c.[2675T>A;2687T=]

ENST00000426809.5:c.[2675T>A;2688G>A]

ENST00000426809.5:c.[2675T>A;2688G=]

ENST00000426809.5:c.[2675T>A;2689C>T;2691...

ENST00000426809.5:c.[2675T>A;2689C>T;2691...

ENST00000426809.5:c.[2675T>A;2690T=]

ENST00000426809.5:c.[2675T>A;2691T>A]

ENST00000426809.5:c.[2675T>A;2691T>C]

ENST00000426809.5:c.[2675T>A;2691T>G]

ENST00000426809.5:c.[2675T>A;2691T=]

ENST00000426809.5:c.[2675T>A;2694T>A]

ENST00000426809.5:c.[2675T>A;2694T>C]

ENST00000426809.5:c.[2675T>A;2694T>G]

ENST00000426809.5:c.[2675T>A;2700A=]

ENST00000426809.5:c.[2675T>A;2700A>C]

ENST00000426809.5:c.[2675T>A;2700A>G]

ENST00000426809.5:c.[2675T>A;2700A>T]

ENST00000426809.5:c.[2675T>A;2703C=]

ENST00000426809.5:c.[2675T>A;2703C>T]

ENST00000426809.5:c.[2675T>A;2706C>T]

ENST00000426809.5:c.[2675T>A;2707A=]

ENST00000426809.5:c.[2675T>A;2707A>C]

ENST00000426809.5:c.[2675T>A;2709A=]

ENST00000426809.5:c.[2675T>A;2709A>G]

ENST00000426809.5:c.[2675T>A;2710G=]

ENST00000426809.5:c.[2675T>A;2711G=]

ENST00000426809.5:c.[2675T>A;2712T>A]

ENST00000426809.5:c.[2675T>A;2712T>C]

ENST00000426809.5:c.[2675T>A;2712T>G]

ENST00000426809.5:c.[2675T>A;2713C>T]

ENST00000426809.5:c.[2675T>A;2714_2720del...

ENST00000426809.5:c.[2675T>A;2715del;2718...

ENST00000426809.5:c.[2675T>A;2715A=]

ENST00000426809.5:c.[2675T>A;2715A>C]

ENST00000426809.5:c.[2675T>A;2715A>G]

ENST00000426809.5:c.[2675T>A;2715A>T]

ENST00000426809.5:c.[2675T>A;2715_2716del...

ENST00000426809.5:c.[2675T>A;2716C=]

ENST00000426809.5:c.[2675T>A;2717C=]

ENST00000426809.5:c.[2675T>A;2718A=]

ENST00000426809.5:c.[2675T>A;2718A>C]

ENST00000426809.5:c.[2675T>A;2718A>G]

ENST00000426809.5:c.[2675T>A;2718A>T]

ENST00000426809.5:c.[2675T>A;2719C=]

ENST00000426809.5:c.[2675T>A;2719C>T]

ENST00000426809.5:c.[2675T>A;2719_2722del...

ENST00000426809.5:c.[2675T>A;2720T=]

ENST00000426809.5:c.[2675T>A;2721G>A]

ENST00000426809.5:c.[2675T>A;2721G>C]

ENST00000426809.5:c.[2675T>A;2721G>T]

ENST00000426809.5:c.[2675T>A;2722G=]

ENST00000426809.5:c.[2675T>A;2723T=]

ENST00000426809.5:c.[2675T>A;2724G>A]

ENST00000426809.5:c.[2675T>A;2724G>C]

ENST00000426809.5:c.[2675T>A;2724G>T]

ENST00000426809.5:c.[2675T>A;2725C=]

ENST00000426809.5:c.[2675T>A;2726A=]

ENST00000426809.5:c.[2675T>A;2727T>C]

ENST00000426809.5:c.[2675T>A;2727T=]

ENST00000426809.5:c.[2675T>A;2729C=]

ENST00000426809.5:c.[2675T>A;2730T>A]

ENST00000426809.5:c.[2675T>A;2730T>C]

ENST00000426809.5:c.[2675T>A;2730T>G]

ENST00000426809.5:c.[2675T>A;2730T=]

ENST00000426809.5:c.[2675T>A;2731C>T]

ENST00000426809.5:c.[2675T>A;2731_2732del...

ENST00000426809.5:c.[2675T>A;2732T=]

ENST00000426809.5:c.[2675T>A;2733A>C]

ENST00000426809.5:c.[2675T>A;2733A>G]

ENST00000426809.5:c.[2675T>A;2733A>T]

ENST00000426809.5:c.[2675T>A;2734A=]

ENST00000426809.5:c.[2675T>A;2734_2735del...

ENST00000426809.5:c.[2675T>A;2736C>A]

ENST00000426809.5:c.[2675T>A;2736C=]

ENST00000426809.5:c.[2675T>A;2736C>T]

ENST00000426809.5:c.[2675T>A;2739A>C]

ENST00000426809.5:c.[2675T>A;2739A>G]

ENST00000426809.5:c.[2675T>A;2739A>T]

ENST00000426809.5:c.[2675T>A;2741T=]

ENST00000426809.5:c.[2675T>A;2742G>A]

ENST00000426809.5:c.[2675T>A;2742G>C]

ENST00000426809.5:c.[2675T>A;2742G=]

ENST00000426809.5:c.[2675T>A;2742G>T]

ENST00000426809.5:c.[2675T>A;2744C=]

ENST00000426809.5:c.[2675T>A;2745G>A]

ENST00000426809.5:c.[2675T>A;2745G>C]

ENST00000426809.5:c.[2675T>A;2745G=]

ENST00000426809.5:c.[2675T>A;2745G>T]

ENST00000426809.5:c.[2675T>A;2746A=]

ENST00000426809.5:c.[2675T>A;2747A=]

ENST00000426809.5:c.[2675T>A;2748A>G]

ENST00000426809.5:c.[2675T>A;2750T=]

ENST00000426809.5:c.[2675T>A;2751T>A]

ENST00000426809.5:c.[2675T>A;2751T>C]

ENST00000426809.5:c.[2675T>A;2752T>C]

ENST00000426809.5:c.[2675T>A;2753T=]

ENST00000426809.5:c.[2675T>A;2754A=]

ENST00000426809.5:c.[2675T>A;2754A>G]

ENST00000426809.5:c.[2675T>A;2755C=]

ENST00000426809.5:c.[2675T>A;2756A=]

ENST00000426809.5:c.[2675T>A;2757C=]

ENST00000426809.5:c.[2675T>A;2757C>T]