Canonical Allele Identifier: CA913189947

Gene: CFTR

Linked Data

• ClinVar Variation Id: 596268
• ClinVar RCV Id: RCV000732035 ; RCV000799970
• dbSNP Id: rs1562928927

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664782del , CM000669.2:g.117664782del	GRCh38
NC_000007.13:g.117304836del , CM000669.1:g.117304836del	GRCh37
NC_000007.12:g.117092072del	NCBI36
NG_016465.4:g.203999del , LRG_663:g.203999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*267del	ENSP00000497673.2:n.*267del
ENST00000647978.2:c.*3772del	ENSP00000497658.1:n.*3772del
ENST00000649781.2:c.3875del	ENSP00000497203.1:p.Leu1292Ter
ENST00000685018.2:c.*271del	ENSP00000510194.2:n.*271del
ENST00000687278.2:c.*711del	ENSP00000509593.2:n.*711del
ENST00000699585.1:c.*267del	ENSP00000514456.1:n.*267del
ENST00000699598.1:c.4058del	ENSP00000514467.1:p.Leu1353Ter
ENST00000699599.1:c.*271del	ENSP00000514468.1:n.*271del
ENST00000699600.1:c.*719del	ENSP00000514469.1:n.*719del
ENST00000699601.1:c.*2433del	ENSP00000514470.1:n.*2433del
ENST00000699602.1:c.4052del	ENSP00000514471.1:p.Leu1351Ter
ENST00000699604.1:c.*3882del	ENSP00000514472.1:n.*3882del
ENST00000699605.1:c.3632del	ENSP00000514473.1:p.Leu1211Ter
ENST00000699606.1:n.2226del
ENST00000685018.1:c.922del	ENSP00000510194.1:n.922del
ENST00000687278.1:c.1845del	ENSP00000509593.1:n.1845del
ENST00000689011.1:c.640del
ENST00000003084.11:c.4058del MANE Select	ENSP00000003084.6:p.Leu1353Ter
ENST00000647720.1:c.1508del
ENST00000649781.1:c.3875del	ENSP00000497203.1:p.Leu1292Ter
ENST00000003084.10:c.4058del	ENSP00000003084.6:p.Leu1353Ter
ENST00000426809.5:c.3968del	ENSP00000389119.1:p.Leu1323Ter
ENST00000600166.1:c.184del
NM_000492.3:c.4058del , LRG_663t1:c.4058del	NP_000483.3:p.Leu1353Ter
XM_011515751.1:c.4148del	XP_011514053.1:p.Leu1383Ter
XM_011515752.1:c.4148del	XP_011514054.1:p.Leu1383Ter
XM_011515753.1:c.3815del	XP_011514055.1:p.Leu1272Ter
XM_011515754.1:c.3815del	XP_011514056.1:p.Leu1272Ter
NM_000492.4:c.4058del MANE Select	NP_000483.3:p.Leu1353Ter