Canonical Allele Identifier: CA2697557568

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2744386
• ClinVar RCV Id: RCV003506854

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117540308del , CM000669.2:g.117540308del	GRCh38
NC_000007.13:g.117180362del , CM000669.1:g.117180362del	GRCh37
NC_000007.12:g.116967598del	NCBI36
NG_016465.4:g.79525del , LRG_663:g.79525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1078del	ENSP00000497673.2:p.Thr360HisfsTer9
ENST00000647978.2:c.*975del	ENSP00000497658.1:n.*975del
ENST00000649781.2:c.1078del	ENSP00000497203.1:p.Thr360HisfsTer9
ENST00000685018.2:c.1078del	ENSP00000510194.2:p.Thr360HisfsTer9
ENST00000687278.2:c.1078del	ENSP00000509593.2:p.Thr360HisfsTer9
ENST00000699585.1:c.1078del	ENSP00000514456.1:p.Thr360HisfsTer9
ENST00000699596.1:c.1078del	ENSP00000514465.1:p.Thr360HisfsTer9
ENST00000699597.1:c.1078del	ENSP00000514466.1:p.Thr360HisfsTer9
ENST00000699598.1:c.1078del	ENSP00000514467.1:p.Thr360HisfsTer9
ENST00000699599.1:c.1078del	ENSP00000514468.1:p.Thr360HisfsTer9
ENST00000699600.1:c.1078del	ENSP00000514469.1:p.Thr360HisfsTer9
ENST00000699601.1:c.1078del	ENSP00000514470.1:p.Thr360HisfsTer9
ENST00000699602.1:c.1078del	ENSP00000514471.1:p.Thr360HisfsTer9
ENST00000699604.1:c.*902del	ENSP00000514472.1:n.*902del
ENST00000699605.1:c.835del	ENSP00000514473.1:p.Thr279HisfsTer9
ENST00000003084.11:c.1078del MANE Select	ENSP00000003084.6:p.Thr360HisfsTer9
ENST00000647978.1:c.*975del	ENSP00000497658.1:n.*975del
ENST00000648260.1:c.1078del	ENSP00000497957.1:p.Thr360HisfsTer9
ENST00000649406.1:c.1078del	ENSP00000497965.1:p.Thr360HisfsTer9
ENST00000649781.1:c.1078del	ENSP00000497203.1:p.Thr360HisfsTer9
ENST00000673785.1:c.835del	ENSP00000501235.1:p.Thr279HisfsTer9
ENST00000003084.10:c.1078del	ENSP00000003084.6:p.Thr360HisfsTer9
ENST00000426809.5:c.988del	ENSP00000389119.1:p.Thr330HisfsTer9
NM_000492.3:c.1078del , LRG_663t1:c.1078del	NP_000483.3:p.Thr360HisfsTer9
XM_011515751.1:c.1168del	XP_011514053.1:p.Thr390HisfsTer9
XM_011515752.1:c.1168del	XP_011514054.1:p.Thr390HisfsTer9
XM_011515753.1:c.835del	XP_011514055.1:p.Thr279HisfsTer9
XM_011515754.1:c.835del	XP_011514056.1:p.Thr279HisfsTer9
NM_000492.4:c.1078del MANE Select	NP_000483.3:p.Thr360HisfsTer9