Canonical Allele Identifier: CA2695199627

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2680708
• ClinVar RCV Id: RCV003475687

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610608del , CM000669.2:g.117610608del	GRCh38
NC_000007.13:g.117250662del , CM000669.1:g.117250662del	GRCh37
NC_000007.12:g.117037898del	NCBI36
NG_016465.4:g.149825del , LRG_663:g.149825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3078del	ENSP00000497673.2:p.Phe1026LeufsTer4
ENST00000647978.2:c.*2792del	ENSP00000497658.1:n.*2792del
ENST00000649781.2:c.2895del	ENSP00000497203.1:p.Phe965LeufsTer4
ENST00000685018.2:c.3078del	ENSP00000510194.2:p.Phe1026LeufsTer4
ENST00000687278.2:c.3078del	ENSP00000509593.2:p.Phe1026LeufsTer4
ENST00000699585.1:c.3078del	ENSP00000514456.1:p.Phe1026LeufsTer4
ENST00000699598.1:c.3078del	ENSP00000514467.1:p.Phe1026LeufsTer4
ENST00000699599.1:c.3078del	ENSP00000514468.1:p.Phe1026LeufsTer4
ENST00000699600.1:c.3078del	ENSP00000514469.1:p.Phe1026LeufsTer4
ENST00000699601.1:c.*1378del	ENSP00000514470.1:n.*1378del
ENST00000699602.1:c.3078del	ENSP00000514471.1:p.Phe1026LeufsTer4
ENST00000699604.1:c.*2902del	ENSP00000514472.1:n.*2902del
ENST00000699605.1:c.2652del	ENSP00000514473.1:p.Phe884LeufsTer4
ENST00000687278.1:c.669del	ENSP00000509593.1:p.Phe223LeufsTer4
ENST00000003084.11:c.3078del MANE Select	ENSP00000003084.6:p.Phe1026LeufsTer4
ENST00000647720.1:c.728del
ENST00000648260.1:c.1860del	ENSP00000497957.1:p.Phe620LeufsTer4
ENST00000649406.1:c.2895del	ENSP00000497965.1:p.Phe965LeufsTer4
ENST00000649781.1:c.2895del	ENSP00000497203.1:p.Phe965LeufsTer4
ENST00000003084.10:c.3078del	ENSP00000003084.6:p.Phe1026LeufsTer4
ENST00000426809.5:c.2988del	ENSP00000389119.1:p.Phe996LeufsTer4
NM_000492.3:c.3078del , LRG_663t1:c.3078del	NP_000483.3:p.Phe1026LeufsTer4
XM_011515751.1:c.3168del	XP_011514053.1:p.Phe1056LeufsTer4
XM_011515752.1:c.3168del	XP_011514054.1:p.Phe1056LeufsTer4
XM_011515753.1:c.2835del	XP_011514055.1:p.Phe945LeufsTer4
XM_011515754.1:c.2835del	XP_011514056.1:p.Phe945LeufsTer4
NM_000492.4:c.3078del MANE Select	NP_000483.3:p.Phe1026LeufsTer4