Canonical Allele Identifier: CA577222848

Gene: CFTR

Linked Data

• dbSNP Id: rs1562916026
• gnomAD v2: 7-117254674-AGAAG-A
• gnomAD v4: 7-117614620-AGAAG-A
• MyVariant Identifiers: chr7:g.117254675_117254678del (hg19) ; chr7:g.117614621_117614624del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614625_117614628del , CM000669.2:g.117614625_117614628del	GRCh38
NC_000007.13:g.117254679_117254682del , CM000669.1:g.117254679_117254682del	GRCh37
NC_000007.12:g.117041915_117041918del	NCBI36
NG_016465.4:g.153842_153845del , LRG_663:g.153842_153845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3380_3383del	ENSP00000497673.2:p.Gly1127GlufsTer6
ENST00000647978.2:c.*3094_*3097del	ENSP00000497658.1:n.*3094_*3097del
ENST00000649781.2:c.3197_3200del	ENSP00000497203.1:p.Gly1066GlufsTer6
ENST00000685018.2:c.3380_3383del	ENSP00000510194.2:p.Gly1127GlufsTer6
ENST00000687278.2:c.3380_3383del	ENSP00000509593.2:p.Gly1127GlufsTer6
ENST00000699585.1:c.3380_3383del	ENSP00000514456.1:p.Gly1127GlufsTer6
ENST00000699598.1:c.3380_3383del	ENSP00000514467.1:p.Gly1127GlufsTer6
ENST00000699599.1:c.3380_3383del	ENSP00000514468.1:p.Gly1127GlufsTer6
ENST00000699600.1:c.3380_3383del	ENSP00000514469.1:p.Gly1127GlufsTer6
ENST00000699601.1:c.*1755_*1758del	ENSP00000514470.1:n.*1755_*1758del
ENST00000699602.1:c.3374_3377del	ENSP00000514471.1:p.Gly1125GlufsTer6
ENST00000699604.1:c.*3204_*3207del	ENSP00000514472.1:n.*3204_*3207del
ENST00000699605.1:c.2954_2957del	ENSP00000514473.1:p.Gly985GlufsTer6
ENST00000685018.1:c.128_131del	ENSP00000510194.1:p.Gly43GlufsTer6
ENST00000687278.1:c.971_974del	ENSP00000509593.1:p.Gly324GlufsTer6
ENST00000003084.11:c.3380_3383del MANE Select	ENSP00000003084.6:p.Gly1127GlufsTer6
ENST00000647720.1:c.1030_1033del
ENST00000648260.1:c.2162_2165del	ENSP00000497957.1:p.Gly721GlufsTer6
ENST00000649406.1:c.3197_3200del	ENSP00000497965.1:p.Gly1066GlufsTer6
ENST00000649781.1:c.3197_3200del	ENSP00000497203.1:p.Gly1066GlufsTer6
ENST00000003084.10:c.3380_3383del	ENSP00000003084.6:p.Gly1127GlufsTer6
ENST00000426809.5:c.3290_3293del	ENSP00000389119.1:p.Gly1097GlufsTer6
ENST00000468795.1:c.205_208del
NM_000492.3:c.3380_3383del , LRG_663t1:c.3380_3383del	NP_000483.3:p.Gly1127GlufsTer6
XM_011515751.1:c.3470_3473del	XP_011514053.1:p.Gly1157GlufsTer6
XM_011515752.1:c.3470_3473del	XP_011514054.1:p.Gly1157GlufsTer6
XM_011515753.1:c.3137_3140del	XP_011514055.1:p.Gly1046GlufsTer6
XM_011515754.1:c.3137_3140del	XP_011514056.1:p.Gly1046GlufsTer6
NM_000492.4:c.3380_3383del MANE Select	NP_000483.3:p.Gly1127GlufsTer6