Canonical Allele Identifier: CA340653
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 7194
dbSNP Id: rs78802634

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117611707G>A , CM000669.2:g.117611707G>A GRCh38
NC_000007.13:g.117251761G>A , CM000669.1:g.117251761G>A GRCh37
NC_000007.12:g.117038997G>A NCBI36
NG_016465.4:g.150924G>A , LRG_663:g.150924G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3266G>A ENSP00000497673.2:p.Trp1089Ter
ENST00000647978.2:c.*2980G>A ENSP00000497658.1:n.*2980G>A
ENST00000649781.2:c.3083G>A ENSP00000497203.1:p.Trp1028Ter
ENST00000685018.2:c.3266G>A ENSP00000510194.2:p.Trp1089Ter
ENST00000687278.2:c.3266G>A ENSP00000509593.2:p.Trp1089Ter
ENST00000699585.1:c.3266G>A ENSP00000514456.1:p.Trp1089Ter
ENST00000699598.1:c.3266G>A ENSP00000514467.1:p.Trp1089Ter
ENST00000699599.1:c.3266G>A ENSP00000514468.1:p.Trp1089Ter
ENST00000699600.1:c.3266G>A ENSP00000514469.1:p.Trp1089Ter
ENST00000699601.1:c.*1566G>A ENSP00000514470.1:n.*1566G>A
ENST00000699602.1:c.3266G>A ENSP00000514471.1:p.Trp1089Ter
ENST00000699604.1:c.*3090G>A ENSP00000514472.1:n.*3090G>A
ENST00000699605.1:c.2840G>A ENSP00000514473.1:p.Trp947Ter
ENST00000685018.1:c.14G>A ENSP00000510194.1:p.Trp5Ter
ENST00000687278.1:c.857G>A ENSP00000509593.1:p.Trp286Ter
ENST00000003084.11:c.3266G>A MANE Select ENSP00000003084.6:p.Trp1089Ter
ENST00000647720.1:c.916G>A
ENST00000648260.1:c.2048G>A ENSP00000497957.1:p.Trp683Ter
ENST00000649406.1:c.3083G>A ENSP00000497965.1:p.Trp1028Ter
ENST00000649781.1:c.3083G>A ENSP00000497203.1:p.Trp1028Ter
ENST00000003084.10:c.3266G>A ENSP00000003084.6:p.Trp1089Ter
ENST00000426809.5:c.3176G>A ENSP00000389119.1:p.Trp1059Ter
ENST00000468795.1:c.91G>A
NM_000492.3:c.3266G>A , LRG_663t1:c.3266G>A NP_000483.3:p.Trp1089Ter
XM_011515751.1:c.3356G>A XP_011514053.1:p.Trp1119Ter
XM_011515752.1:c.3356G>A XP_011514054.1:p.Trp1119Ter
XM_011515753.1:c.3023G>A XP_011514055.1:p.Trp1008Ter
XM_011515754.1:c.3023G>A XP_011514056.1:p.Trp1008Ter
NM_000492.4:c.3266G>A MANE Select NP_000483.3:p.Trp1089Ter