Canonical Allele Identifier: CA368980785

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117232497C>A (hg19) ; chr7:g.117592443C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592443C>A , CM000669.2:g.117592443C>A	GRCh38
NC_000007.13:g.117232497C>A , CM000669.1:g.117232497C>A	GRCh37
NC_000007.12:g.117019733C>A	NCBI36
NG_016465.4:g.131660C>A , LRG_663:g.131660C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2276C>A	ENSP00000497673.2:p.Pro759His
ENST00000647978.2:c.*1990C>A	ENSP00000497658.1:n.*1990C>A
ENST00000649781.2:c.2093C>A	ENSP00000497203.1:p.Pro698His
ENST00000685018.2:c.2276C>A	ENSP00000510194.2:p.Pro759His
ENST00000687278.2:c.2276C>A	ENSP00000509593.2:p.Pro759His
ENST00000699585.1:c.2276C>A	ENSP00000514456.1:p.Pro759His
ENST00000699598.1:c.2276C>A	ENSP00000514467.1:p.Pro759His
ENST00000699599.1:c.2276C>A	ENSP00000514468.1:p.Pro759His
ENST00000699600.1:c.2276C>A	ENSP00000514469.1:p.Pro759His
ENST00000699601.1:c.*576C>A	ENSP00000514470.1:n.*576C>A
ENST00000699602.1:c.2276C>A	ENSP00000514471.1:p.Pro759His
ENST00000699604.1:c.*2100C>A	ENSP00000514472.1:n.*2100C>A
ENST00000699605.1:c.1850C>A	ENSP00000514473.1:p.Pro617His
ENST00000003084.11:c.2276C>A MANE Select	ENSP00000003084.6:p.Pro759His
ENST00000647978.1:c.*1990C>A	ENSP00000497658.1:n.*1990C>A
ENST00000648260.1:c.1402-10383C>A	ENSP00000497957.1:n.1402-10383C>A
ENST00000649406.1:c.2093C>A	ENSP00000497965.1:p.Pro698His
ENST00000649781.1:c.2093C>A	ENSP00000497203.1:p.Pro698His
ENST00000003084.10:c.2276C>A	ENSP00000003084.6:p.Pro759His
ENST00000426809.5:c.2186C>A	ENSP00000389119.1:p.Pro729His
NM_000492.3:c.2276C>A , LRG_663t1:c.2276C>A	NP_000483.3:p.Pro759His
XM_011515751.1:c.2366C>A	XP_011514053.1:p.Pro789His
XM_011515752.1:c.2366C>A	XP_011514054.1:p.Pro789His
XM_011515753.1:c.2033C>A	XP_011514055.1:p.Pro678His
XM_011515754.1:c.2033C>A	XP_011514056.1:p.Pro678His
NM_000492.4:c.2276C>A MANE Select	NP_000483.3:p.Pro759His