Canonical Allele Identifier: CA1737374587

Gene: CFTR

Linked Data

• dbSNP Id: rs1792257406

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603583del , CM000669.2:g.117603583del	GRCh38
NC_000007.13:g.117243637del , CM000669.1:g.117243637del	GRCh37
NC_000007.12:g.117030873del	NCBI36
NG_016465.4:g.142800del , LRG_663:g.142800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2709del	ENSP00000497673.2:p.Tyr903Ter
ENST00000647978.2:c.*2423del	ENSP00000497658.1:n.*2423del
ENST00000649781.2:c.2526del	ENSP00000497203.1:p.Tyr842Ter
ENST00000685018.2:c.2709del	ENSP00000510194.2:p.Tyr903Ter
ENST00000687278.2:c.2709del	ENSP00000509593.2:p.Tyr903Ter
ENST00000699585.1:c.2709del	ENSP00000514456.1:p.Tyr903Ter
ENST00000699598.1:c.2709del	ENSP00000514467.1:p.Tyr903Ter
ENST00000699599.1:c.2709del	ENSP00000514468.1:p.Tyr903Ter
ENST00000699600.1:c.2709del	ENSP00000514469.1:p.Tyr903Ter
ENST00000699601.1:c.*1009del	ENSP00000514470.1:n.*1009del
ENST00000699602.1:c.2709del	ENSP00000514471.1:p.Tyr903Ter
ENST00000699604.1:c.*2533del	ENSP00000514472.1:n.*2533del
ENST00000699605.1:c.2283del	ENSP00000514473.1:p.Tyr761Ter
ENST00000687278.1:c.300del	ENSP00000509593.1:p.Tyr100Ter
ENST00000003084.11:c.2709del MANE Select	ENSP00000003084.6:p.Tyr903Ter
ENST00000647720.1:c.359del
ENST00000648260.1:c.1491del	ENSP00000497957.1:p.Tyr497Ter
ENST00000649406.1:c.2526del	ENSP00000497965.1:p.Tyr842Ter
ENST00000649781.1:c.2526del	ENSP00000497203.1:p.Tyr842Ter
ENST00000003084.10:c.2709del	ENSP00000003084.6:p.Tyr903Ter
ENST00000426809.5:c.2619del	ENSP00000389119.1:p.Tyr873Ter
NM_000492.3:c.2709del , LRG_663t1:c.2709del	NP_000483.3:p.Tyr903Ter
XM_011515751.1:c.2799del	XP_011514053.1:p.Tyr933Ter
XM_011515752.1:c.2799del	XP_011514054.1:p.Tyr933Ter
XM_011515753.1:c.2466del	XP_011514055.1:p.Tyr822Ter
XM_011515754.1:c.2466del	XP_011514056.1:p.Tyr822Ter
NM_000492.4:c.2709del MANE Select	NP_000483.3:p.Tyr903Ter