Canonical Allele Identifier: CA577222849

Gene: CFTR

Linked Data

• dbSNP Id: rs1357673064
• gnomAD v2: 7-117254713-TATC-T
• gnomAD v4: 7-117614659-TATC-T
• MyVariant Identifiers: chr7:g.117254714_117254716del (hg19) ; chr7:g.117614660_117614662del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614662_117614664del , CM000669.2:g.117614662_117614664del	GRCh38
NC_000007.13:g.117254716_117254718del , CM000669.1:g.117254716_117254718del	GRCh37
NC_000007.12:g.117041952_117041954del	NCBI36
NG_016465.4:g.153879_153881del , LRG_663:g.153879_153881del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3417_3419del	ENSP00000497673.2:p.Ile1139del
ENST00000647978.2:c.*3131_*3133del	ENSP00000497658.1:n.*3131_*3133del
ENST00000649781.2:c.3234_3236del	ENSP00000497203.1:p.Ile1078del
ENST00000685018.2:c.3417_3419del	ENSP00000510194.2:p.Ile1139del
ENST00000687278.2:c.3417_3419del	ENSP00000509593.2:p.Ile1139del
ENST00000699585.1:c.3417_3419del	ENSP00000514456.1:p.Ile1139del
ENST00000699598.1:c.3417_3419del	ENSP00000514467.1:p.Ile1139del
ENST00000699599.1:c.3417_3419del	ENSP00000514468.1:p.Ile1139del
ENST00000699600.1:c.3417_3419del	ENSP00000514469.1:p.Ile1139del
ENST00000699601.1:c.*1792_*1794del	ENSP00000514470.1:n.*1792_*1794del
ENST00000699602.1:c.3411_3413del	ENSP00000514471.1:p.Ile1137del
ENST00000699604.1:c.*3241_*3243del	ENSP00000514472.1:n.*3241_*3243del
ENST00000699605.1:c.2991_2993del	ENSP00000514473.1:p.Ile997del
ENST00000685018.1:c.165_167del	ENSP00000510194.1:p.Ile55del
ENST00000687278.1:c.1008_1010del	ENSP00000509593.1:p.Ile336del
ENST00000003084.11:c.3417_3419del MANE Select	ENSP00000003084.6:p.Ile1139del
ENST00000647720.1:c.1067_1069del
ENST00000648260.1:c.2199_2201del	ENSP00000497957.1:p.Ile733del
ENST00000649406.1:c.3234_3236del	ENSP00000497965.1:p.Ile1078del
ENST00000649781.1:c.3234_3236del	ENSP00000497203.1:p.Ile1078del
ENST00000003084.10:c.3417_3419del	ENSP00000003084.6:p.Ile1139del
ENST00000426809.5:c.3327_3329del	ENSP00000389119.1:p.Ile1109del
ENST00000468795.1:c.242_244del
NM_000492.3:c.3417_3419del , LRG_663t1:c.3417_3419del	NP_000483.3:p.Ile1139del
XM_011515751.1:c.3507_3509del	XP_011514053.1:p.Ile1169del
XM_011515752.1:c.3507_3509del	XP_011514054.1:p.Ile1169del
XM_011515753.1:c.3174_3176del	XP_011514055.1:p.Ile1058del
XM_011515754.1:c.3174_3176del	XP_011514056.1:p.Ile1058del
NM_000492.4:c.3417_3419del MANE Select	NP_000483.3:p.Ile1139del