Canonical Allele Identifier: CA2684621101

Gene: CFTR

Linked Data

• gnomAD v4: 7-117665630-T-TGA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665631_117665632dup , CM000669.2:g.117665631_117665632dup	GRCh38
NC_000007.13:g.117305685_117305686dup , CM000669.1:g.117305685_117305686dup	GRCh37
NC_000007.12:g.117092921_117092922dup	NCBI36
NG_016465.4:g.204848_204849dup , LRG_663:g.204848_204849dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*451+67_*451+68dup	ENSP00000497673.2:n.*451+67_*451+68dup
ENST00000647978.2:c.*3956+67_*3956+68dup	ENSP00000497658.1:n.*3956+67_*3956+68dup
ENST00000649781.2:c.4059+67_4059+68dup	ENSP00000497203.1:n.4059+67_4059+68dup
ENST00000685018.2:c.*455+67_*455+68dup	ENSP00000510194.2:n.*455+67_*455+68dup
ENST00000687278.2:c.*895+67_*895+68dup	ENSP00000509593.2:n.*895+67_*895+68dup
ENST00000699585.1:c.*451+67_*451+68dup	ENSP00000514456.1:n.*451+67_*451+68dup
ENST00000699598.1:c.4242+67_4242+68dup	ENSP00000514467.1:n.4242+67_4242+68dup
ENST00000699599.1:c.*455+67_*455+68dup	ENSP00000514468.1:n.*455+67_*455+68dup
ENST00000699600.1:c.*903+67_*903+68dup	ENSP00000514469.1:n.*903+67_*903+68dup
ENST00000699601.1:c.*2617+67_*2617+68dup	ENSP00000514470.1:n.*2617+67_*2617+68dup
ENST00000699602.1:c.4236+67_4236+68dup	ENSP00000514471.1:n.4236+67_4236+68dup
ENST00000699604.1:c.*4066+67_*4066+68dup	ENSP00000514472.1:n.*4066+67_*4066+68dup
ENST00000699605.1:c.3816+67_3816+68dup	ENSP00000514473.1:n.3816+67_3816+68dup
ENST00000699606.1:n.2477_2478dup
ENST00000685018.1:c.1106+67_1106+68dup	ENSP00000510194.1:n.1106+67_1106+68dup
ENST00000687278.1:c.2029+67_2029+68dup	ENSP00000509593.1:n.2029+67_2029+68dup
ENST00000689011.1:c.824+67_824+68dup
ENST00000003084.11:c.4242+67_4242+68dup MANE Select	ENSP00000003084.6:n.4242+67_4242+68dup
ENST00000647720.1:c.1692+67_1692+68dup
ENST00000649781.1:c.4059+67_4059+68dup	ENSP00000497203.1:n.4059+67_4059+68dup
ENST00000003084.10:c.4242+67_4242+68dup	ENSP00000003084.6:n.4242+67_4242+68dup
ENST00000426809.5:c.4152+67_4152+68dup	ENSP00000389119.1:n.4152+67_4152+68dup
ENST00000600166.1:c.368+67_368+68dup
NM_000492.3:c.4242+67_4242+68dup , LRG_663t1:c.4242+67_4242+68dup	NP_000483.3:n.4242+67_4242+68dup
XM_011515751.1:c.4332+67_4332+68dup	XP_011514053.1:n.4332+67_4332+68dup
XM_011515752.1:c.4332+67_4332+68dup	XP_011514054.1:n.4332+67_4332+68dup
XM_011515753.1:c.3999+67_3999+68dup	XP_011514055.1:n.3999+67_3999+68dup
XM_011515754.1:c.3999+67_3999+68dup	XP_011514056.1:n.3999+67_3999+68dup
NM_000492.4:c.4242+67_4242+68dup MANE Select	NP_000483.3:n.4242+67_4242+68dup