Canonical Allele Identifier: CA832122124

Gene: CFTR

Linked Data

• dbSNP Id: rs1183937142
• MyVariant Identifiers: chr7:g.117304855_117304856del (hg19) ; chr7:g.117664801_117664802del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664802_117664803del , CM000669.2:g.117664802_117664803del	GRCh38
NC_000007.13:g.117304856_117304857del , CM000669.1:g.117304856_117304857del	GRCh37
NC_000007.12:g.117092092_117092093del	NCBI36
NG_016465.4:g.204019_204020del , LRG_663:g.204019_204020del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*287_*288del	ENSP00000497673.2:n.*287_*288del
ENST00000647978.2:c.*3792_*3793del	ENSP00000497658.1:n.*3792_*3793del
ENST00000649781.2:c.3895_3896del	ENSP00000497203.1:p.Val1299SerfsTer3
ENST00000685018.2:c.*291_*292del	ENSP00000510194.2:n.*291_*292del
ENST00000687278.2:c.*731_*732del	ENSP00000509593.2:n.*731_*732del
ENST00000699585.1:c.*287_*288del	ENSP00000514456.1:n.*287_*288del
ENST00000699598.1:c.4078_4079del	ENSP00000514467.1:p.Val1360SerfsTer3
ENST00000699599.1:c.*291_*292del	ENSP00000514468.1:n.*291_*292del
ENST00000699600.1:c.*739_*740del	ENSP00000514469.1:n.*739_*740del
ENST00000699601.1:c.*2453_*2454del	ENSP00000514470.1:n.*2453_*2454del
ENST00000699602.1:c.4072_4073del	ENSP00000514471.1:p.Val1358SerfsTer3
ENST00000699604.1:c.*3902_*3903del	ENSP00000514472.1:n.*3902_*3903del
ENST00000699605.1:c.3652_3653del	ENSP00000514473.1:p.Val1218SerfsTer3
ENST00000699606.1:n.2246_2247del
ENST00000685018.1:c.942_943del	ENSP00000510194.1:n.942_943del
ENST00000687278.1:c.1865_1866del	ENSP00000509593.1:n.1865_1866del
ENST00000689011.1:c.660_661del
ENST00000003084.11:c.4078_4079del MANE Select	ENSP00000003084.6:p.Val1360SerfsTer3
ENST00000647720.1:c.1528_1529del
ENST00000649781.1:c.3895_3896del	ENSP00000497203.1:p.Val1299SerfsTer3
ENST00000003084.10:c.4078_4079del	ENSP00000003084.6:p.Val1360SerfsTer3
ENST00000426809.5:c.3988_3989del	ENSP00000389119.1:p.Val1330SerfsTer3
ENST00000600166.1:c.204_205del
NM_000492.3:c.4078_4079del , LRG_663t1:c.4078_4079del	NP_000483.3:p.Val1360SerfsTer3
XM_011515751.1:c.4168_4169del	XP_011514053.1:p.Val1390SerfsTer3
XM_011515752.1:c.4168_4169del	XP_011514054.1:p.Val1390SerfsTer3
XM_011515753.1:c.3835_3836del	XP_011514055.1:p.Val1279SerfsTer3
XM_011515754.1:c.3835_3836del	XP_011514056.1:p.Val1279SerfsTer3
NM_000492.4:c.4078_4079del MANE Select	NP_000483.3:p.Val1360SerfsTer3