Canonical Allele Identifier: CA913189946

Gene: CFTR

Linked Data

• ClinVar Variation Id: 618940
• ClinVar RCV Id: RCV000757845
• dbSNP Id: rs397508661
• gnomAD v4: 7-117664747-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664752del , CM000669.2:g.117664752del	GRCh38
NC_000007.13:g.117304806del , CM000669.1:g.117304806del	GRCh37
NC_000007.12:g.117092042del	NCBI36
NG_016465.4:g.203969del , LRG_663:g.203969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*237del	ENSP00000497673.2:n.*237del
ENST00000647978.2:c.*3742del	ENSP00000497658.1:n.*3742del
ENST00000649781.2:c.3845del	ENSP00000497203.1:p.Gly1282AlafsTer4
ENST00000685018.2:c.*241del	ENSP00000510194.2:n.*241del
ENST00000687278.2:c.*681del	ENSP00000509593.2:n.*681del
ENST00000699585.1:c.*237del	ENSP00000514456.1:n.*237del
ENST00000699598.1:c.4028del	ENSP00000514467.1:p.Gly1343AlafsTer4
ENST00000699599.1:c.*241del	ENSP00000514468.1:n.*241del
ENST00000699600.1:c.*689del	ENSP00000514469.1:n.*689del
ENST00000699601.1:c.*2403del	ENSP00000514470.1:n.*2403del
ENST00000699602.1:c.4022del	ENSP00000514471.1:p.Gly1341AlafsTer4
ENST00000699604.1:c.*3852del	ENSP00000514472.1:n.*3852del
ENST00000699605.1:c.3602del	ENSP00000514473.1:p.Gly1201AlafsTer4
ENST00000699606.1:n.2196del
ENST00000685018.1:c.892del	ENSP00000510194.1:n.892del
ENST00000687278.1:c.1815del	ENSP00000509593.1:n.1815del
ENST00000689011.1:c.610del
ENST00000003084.11:c.4028del MANE Select	ENSP00000003084.6:p.Gly1343AlafsTer4
ENST00000647720.1:c.1478del
ENST00000649781.1:c.3845del	ENSP00000497203.1:p.Gly1282AlafsTer4
ENST00000003084.10:c.4028del	ENSP00000003084.6:p.Gly1343AlafsTer4
ENST00000426809.5:c.3938del	ENSP00000389119.1:p.Gly1313AlafsTer4
ENST00000600166.1:c.154del
NM_000492.3:c.4028del , LRG_663t1:c.4028del	NP_000483.3:p.Gly1343AlafsTer4
XM_011515751.1:c.4118del	XP_011514053.1:p.Gly1373AlafsTer4
XM_011515752.1:c.4118del	XP_011514054.1:p.Gly1373AlafsTer4
XM_011515753.1:c.3785del	XP_011514055.1:p.Gly1262AlafsTer4
XM_011515754.1:c.3785del	XP_011514056.1:p.Gly1262AlafsTer4
NM_000492.4:c.4028del MANE Select	NP_000483.3:p.Gly1343AlafsTer4