Canonical Allele Identifier: CA327131
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53708
dbSNP Id: rs397508532

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117611734G>A , CM000669.2:g.117611734G>A GRCh38
NC_000007.13:g.117251788G>A , CM000669.1:g.117251788G>A GRCh37
NC_000007.12:g.117039024G>A NCBI36
NG_016465.4:g.150951G>A , LRG_663:g.150951G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3293G>A ENSP00000497673.2:p.Trp1098Ter
ENST00000647978.2:c.*3007G>A ENSP00000497658.1:n.*3007G>A
ENST00000649781.2:c.3110G>A ENSP00000497203.1:p.Trp1037Ter
ENST00000685018.2:c.3293G>A ENSP00000510194.2:p.Trp1098Ter
ENST00000687278.2:c.3293G>A ENSP00000509593.2:p.Trp1098Ter
ENST00000699585.1:c.3293G>A ENSP00000514456.1:p.Trp1098Ter
ENST00000699598.1:c.3293G>A ENSP00000514467.1:p.Trp1098Ter
ENST00000699599.1:c.3293G>A ENSP00000514468.1:p.Trp1098Ter
ENST00000699600.1:c.3293G>A ENSP00000514469.1:p.Trp1098Ter
ENST00000699601.1:c.*1593G>A ENSP00000514470.1:n.*1593G>A
ENST00000699602.1:c.3293G>A ENSP00000514471.1:p.Trp1098Ter
ENST00000699604.1:c.*3117G>A ENSP00000514472.1:n.*3117G>A
ENST00000699605.1:c.2867G>A ENSP00000514473.1:p.Trp956Ter
ENST00000685018.1:c.41G>A ENSP00000510194.1:p.Trp14Ter
ENST00000687278.1:c.884G>A ENSP00000509593.1:p.Trp295Ter
ENST00000003084.11:c.3293G>A MANE Select ENSP00000003084.6:p.Trp1098Ter
ENST00000647720.1:c.943G>A
ENST00000648260.1:c.2075G>A ENSP00000497957.1:p.Trp692Ter
ENST00000649406.1:c.3110G>A ENSP00000497965.1:p.Trp1037Ter
ENST00000649781.1:c.3110G>A ENSP00000497203.1:p.Trp1037Ter
ENST00000003084.10:c.3293G>A ENSP00000003084.6:p.Trp1098Ter
ENST00000426809.5:c.3203G>A ENSP00000389119.1:p.Trp1068Ter
ENST00000468795.1:c.118G>A
NM_000492.3:c.3293G>A , LRG_663t1:c.3293G>A NP_000483.3:p.Trp1098Ter
XM_011515751.1:c.3383G>A XP_011514053.1:p.Trp1128Ter
XM_011515752.1:c.3383G>A XP_011514054.1:p.Trp1128Ter
XM_011515753.1:c.3050G>A XP_011514055.1:p.Trp1017Ter
XM_011515754.1:c.3050G>A XP_011514056.1:p.Trp1017Ter
NM_000492.4:c.3293G>A MANE Select NP_000483.3:p.Trp1098Ter