Canonical Allele Identifier: CA2684649273

Gene: CFTR

Linked Data

• gnomAD v4: 7-117665367-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665371_117665372dup , CM000669.2:g.117665371_117665372dup	GRCh38
NC_000007.13:g.117305425_117305426dup , CM000669.1:g.117305425_117305426dup	GRCh37
NC_000007.12:g.117092661_117092662dup	NCBI36
NG_016465.4:g.204588_204589dup , LRG_663:g.204588_204589dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*346-88_*346-87dup	ENSP00000497673.2:n.*346-88_*346-87dup
ENST00000647978.2:c.*3851-88_*3851-87dup	ENSP00000497658.1:n.*3851-88_*3851-87dup
ENST00000649781.2:c.3954-88_3954-87dup	ENSP00000497203.1:n.3954-88_3954-87dup
ENST00000685018.2:c.*350-88_*350-87dup	ENSP00000510194.2:n.*350-88_*350-87dup
ENST00000687278.2:c.*790-88_*790-87dup	ENSP00000509593.2:n.*790-88_*790-87dup
ENST00000699585.1:c.*346-88_*346-87dup	ENSP00000514456.1:n.*346-88_*346-87dup
ENST00000699598.1:c.4137-88_4137-87dup	ENSP00000514467.1:n.4137-88_4137-87dup
ENST00000699599.1:c.*350-88_*350-87dup	ENSP00000514468.1:n.*350-88_*350-87dup
ENST00000699600.1:c.*798-88_*798-87dup	ENSP00000514469.1:n.*798-88_*798-87dup
ENST00000699601.1:c.*2512-88_*2512-87dup	ENSP00000514470.1:n.*2512-88_*2512-87dup
ENST00000699602.1:c.4131-88_4131-87dup	ENSP00000514471.1:n.4131-88_4131-87dup
ENST00000699604.1:c.*3961-88_*3961-87dup	ENSP00000514472.1:n.*3961-88_*3961-87dup
ENST00000699605.1:c.3711-88_3711-87dup	ENSP00000514473.1:n.3711-88_3711-87dup
ENST00000699606.1:n.2305-88_2305-87dup
ENST00000685018.1:c.1001-88_1001-87dup	ENSP00000510194.1:n.1001-88_1001-87dup
ENST00000687278.1:c.1924-88_1924-87dup	ENSP00000509593.1:n.1924-88_1924-87dup
ENST00000689011.1:c.719-88_719-87dup
ENST00000003084.11:c.4137-88_4137-87dup MANE Select	ENSP00000003084.6:n.4137-88_4137-87dup
ENST00000647720.1:c.1587-88_1587-87dup
ENST00000649781.1:c.3954-88_3954-87dup	ENSP00000497203.1:n.3954-88_3954-87dup
ENST00000003084.10:c.4137-88_4137-87dup	ENSP00000003084.6:n.4137-88_4137-87dup
ENST00000426809.5:c.4047-88_4047-87dup	ENSP00000389119.1:n.4047-88_4047-87dup
ENST00000600166.1:c.263-88_263-87dup
NM_000492.3:c.4137-88_4137-87dup , LRG_663t1:c.4137-88_4137-87dup	NP_000483.3:n.4137-88_4137-87dup
XM_011515751.1:c.4227-88_4227-87dup	XP_011514053.1:n.4227-88_4227-87dup
XM_011515752.1:c.4227-88_4227-87dup	XP_011514054.1:n.4227-88_4227-87dup
XM_011515753.1:c.3894-88_3894-87dup	XP_011514055.1:n.3894-88_3894-87dup
XM_011515754.1:c.3894-88_3894-87dup	XP_011514056.1:n.3894-88_3894-87dup
NM_000492.4:c.4137-88_4137-87dup MANE Select	NP_000483.3:n.4137-88_4137-87dup