Canonical Allele Identifier: CA368986689
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1795728
ClinVar RCV Id: RCV002439538

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603638G>C , CM000669.2:g.117603638G>C GRCh38
NC_000007.13:g.117243692G>C , CM000669.1:g.117243692G>C GRCh37
NC_000007.12:g.117030928G>C NCBI36
NG_016465.4:g.142855G>C , LRG_663:g.142855G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2764G>C ENSP00000497673.2:p.Val922Leu
ENST00000647978.2:c.*2478G>C ENSP00000497658.1:n.*2478G>C
ENST00000649781.2:c.2581G>C ENSP00000497203.1:p.Val861Leu
ENST00000685018.2:c.2764G>C ENSP00000510194.2:p.Val922Leu
ENST00000687278.2:c.2764G>C ENSP00000509593.2:p.Val922Leu
ENST00000699585.1:c.2764G>C ENSP00000514456.1:p.Val922Leu
ENST00000699598.1:c.2764G>C ENSP00000514467.1:p.Val922Leu
ENST00000699599.1:c.2764G>C ENSP00000514468.1:p.Val922Leu
ENST00000699600.1:c.2764G>C ENSP00000514469.1:p.Val922Leu
ENST00000699601.1:c.*1064G>C ENSP00000514470.1:n.*1064G>C
ENST00000699602.1:c.2764G>C ENSP00000514471.1:p.Val922Leu
ENST00000699604.1:c.*2588G>C ENSP00000514472.1:n.*2588G>C
ENST00000699605.1:c.2338G>C ENSP00000514473.1:p.Val780Leu
ENST00000687278.1:c.355G>C ENSP00000509593.1:p.Val119Leu
ENST00000003084.11:c.2764G>C MANE Select ENSP00000003084.6:p.Val922Leu
ENST00000647720.1:c.414G>C
ENST00000648260.1:c.1546G>C ENSP00000497957.1:p.Val516Leu
ENST00000649406.1:c.2581G>C ENSP00000497965.1:p.Val861Leu
ENST00000649781.1:c.2581G>C ENSP00000497203.1:p.Val861Leu
ENST00000003084.10:c.2764G>C ENSP00000003084.6:p.Val922Leu
ENST00000426809.5:c.2674G>C ENSP00000389119.1:p.Val892Leu
NM_000492.3:c.2764G>C , LRG_663t1:c.2764G>C NP_000483.3:p.Val922Leu
XM_011515751.1:c.2854G>C XP_011514053.1:p.Val952Leu
XM_011515752.1:c.2854G>C XP_011514054.1:p.Val952Leu
XM_011515753.1:c.2521G>C XP_011514055.1:p.Val841Leu
XM_011515754.1:c.2521G>C XP_011514056.1:p.Val841Leu
NM_000492.4:c.2764G>C MANE Select NP_000483.3:p.Val922Leu