Canonical Allele Identifier: CA2684649286

Gene: CFTR

Linked Data

• gnomAD v4: 7-117665389-A-ATAT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665393_117665395dup , CM000669.2:g.117665393_117665395dup	GRCh38
NC_000007.13:g.117305447_117305449dup , CM000669.1:g.117305447_117305449dup	GRCh37
NC_000007.12:g.117092683_117092685dup	NCBI36
NG_016465.4:g.204610_204612dup , LRG_663:g.204610_204612dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*346-66_*346-64dup	ENSP00000497673.2:n.*346-66_*346-64dup
ENST00000647978.2:c.*3851-66_*3851-64dup	ENSP00000497658.1:n.*3851-66_*3851-64dup
ENST00000649781.2:c.3954-66_3954-64dup	ENSP00000497203.1:n.3954-66_3954-64dup
ENST00000685018.2:c.*350-66_*350-64dup	ENSP00000510194.2:n.*350-66_*350-64dup
ENST00000687278.2:c.*790-66_*790-64dup	ENSP00000509593.2:n.*790-66_*790-64dup
ENST00000699585.1:c.*346-66_*346-64dup	ENSP00000514456.1:n.*346-66_*346-64dup
ENST00000699598.1:c.4137-66_4137-64dup	ENSP00000514467.1:n.4137-66_4137-64dup
ENST00000699599.1:c.*350-66_*350-64dup	ENSP00000514468.1:n.*350-66_*350-64dup
ENST00000699600.1:c.*798-66_*798-64dup	ENSP00000514469.1:n.*798-66_*798-64dup
ENST00000699601.1:c.*2512-66_*2512-64dup	ENSP00000514470.1:n.*2512-66_*2512-64dup
ENST00000699602.1:c.4131-66_4131-64dup	ENSP00000514471.1:n.4131-66_4131-64dup
ENST00000699604.1:c.*3961-66_*3961-64dup	ENSP00000514472.1:n.*3961-66_*3961-64dup
ENST00000699605.1:c.3711-66_3711-64dup	ENSP00000514473.1:n.3711-66_3711-64dup
ENST00000699606.1:n.2305-66_2305-64dup
ENST00000685018.1:c.1001-66_1001-64dup	ENSP00000510194.1:n.1001-66_1001-64dup
ENST00000687278.1:c.1924-66_1924-64dup	ENSP00000509593.1:n.1924-66_1924-64dup
ENST00000689011.1:c.719-66_719-64dup
ENST00000003084.11:c.4137-66_4137-64dup MANE Select	ENSP00000003084.6:n.4137-66_4137-64dup
ENST00000647720.1:c.1587-66_1587-64dup
ENST00000649781.1:c.3954-66_3954-64dup	ENSP00000497203.1:n.3954-66_3954-64dup
ENST00000003084.10:c.4137-66_4137-64dup	ENSP00000003084.6:n.4137-66_4137-64dup
ENST00000426809.5:c.4047-66_4047-64dup	ENSP00000389119.1:n.4047-66_4047-64dup
ENST00000600166.1:c.263-66_263-64dup
NM_000492.3:c.4137-66_4137-64dup , LRG_663t1:c.4137-66_4137-64dup	NP_000483.3:n.4137-66_4137-64dup
XM_011515751.1:c.4227-66_4227-64dup	XP_011514053.1:n.4227-66_4227-64dup
XM_011515752.1:c.4227-66_4227-64dup	XP_011514054.1:n.4227-66_4227-64dup
XM_011515753.1:c.3894-66_3894-64dup	XP_011514055.1:n.3894-66_3894-64dup
XM_011515754.1:c.3894-66_3894-64dup	XP_011514056.1:n.3894-66_3894-64dup
NM_000492.4:c.4137-66_4137-64dup MANE Select	NP_000483.3:n.4137-66_4137-64dup