Canonical Allele Identifier: CA457228541

Gene: CFTR

Linked Data

• gnomAD v4: 7-117642593-G-A
• MyVariant Identifiers: chr7:g.117282647G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642593G>A , CM000669.2:g.117642593G>A	GRCh38
NC_000007.13:g.117282647G>A , CM000669.1:g.117282647G>A	GRCh37
NC_000007.12:g.117069883G>A	NCBI36
NG_016465.4:g.181810G>A , LRG_663:g.181810G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*82G>A	ENSP00000497673.2:n.*82G>A
ENST00000647978.2:c.*3587G>A	ENSP00000497658.1:n.*3587G>A
ENST00000649781.2:c.3690G>A	ENSP00000497203.1:p.Gln1230=
ENST00000685018.2:c.3873G>A	ENSP00000510194.2:p.Gln1291=
ENST00000687278.2:c.*526G>A	ENSP00000509593.2:n.*526G>A
ENST00000699585.1:c.*82G>A	ENSP00000514456.1:n.*82G>A
ENST00000699598.1:c.3873G>A	ENSP00000514467.1:p.Gln1291=
ENST00000699599.1:c.3873G>A	ENSP00000514468.1:p.Gln1291=
ENST00000699600.1:c.*534G>A	ENSP00000514469.1:n.*534G>A
ENST00000699601.1:c.*2248G>A	ENSP00000514470.1:n.*2248G>A
ENST00000699602.1:c.3867G>A	ENSP00000514471.1:p.Gln1289=
ENST00000699604.1:c.*3697G>A	ENSP00000514472.1:n.*3697G>A
ENST00000699605.1:c.3447G>A	ENSP00000514473.1:p.Gln1149=
ENST00000685018.1:c.621G>A	ENSP00000510194.1:p.Gln207=
ENST00000687278.1:c.1660G>A	ENSP00000509593.1:n.1660G>A
ENST00000689011.1:c.455G>A
ENST00000003084.11:c.3873G>A MANE Select	ENSP00000003084.6:p.Gln1291=
ENST00000647720.1:c.1323G>A
ENST00000649781.1:c.3690G>A	ENSP00000497203.1:p.Gln1230=
ENST00000003084.10:c.3873G>A	ENSP00000003084.6:p.Gln1291=
ENST00000426809.5:c.3783G>A	ENSP00000389119.1:p.Gln1261=
NM_000492.3:c.3873G>A , LRG_663t1:c.3873G>A	NP_000483.3:p.Gln1291=
XM_011515751.1:c.3963G>A	XP_011514053.1:p.Gln1321=
XM_011515752.1:c.3963G>A	XP_011514054.1:p.Gln1321=
XM_011515753.1:c.3630G>A	XP_011514055.1:p.Gln1210=
XM_011515754.1:c.3630G>A	XP_011514056.1:p.Gln1210=
NM_000492.4:c.3873G>A MANE Select	NP_000483.3:p.Gln1291=