Canonical Allele Identifier: CA457228040

Gene: CFTR

Linked Data

• gnomAD v4: 7-117603763-C-A
• MyVariant Identifiers: chr7:g.117243817C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603763C>A , CM000669.2:g.117603763C>A	GRCh38
NC_000007.13:g.117243817C>A , CM000669.1:g.117243817C>A	GRCh37
NC_000007.12:g.117031053C>A	NCBI36
NG_016465.4:g.142980C>A , LRG_663:g.142980C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2889C>A	ENSP00000497673.2:p.Thr963=
ENST00000647978.2:c.*2603C>A	ENSP00000497658.1:n.*2603C>A
ENST00000649781.2:c.2706C>A	ENSP00000497203.1:p.Thr902=
ENST00000685018.2:c.2889C>A	ENSP00000510194.2:p.Thr963=
ENST00000687278.2:c.2889C>A	ENSP00000509593.2:p.Thr963=
ENST00000699585.1:c.2889C>A	ENSP00000514456.1:p.Thr963=
ENST00000699598.1:c.2889C>A	ENSP00000514467.1:p.Thr963=
ENST00000699599.1:c.2889C>A	ENSP00000514468.1:p.Thr963=
ENST00000699600.1:c.2889C>A	ENSP00000514469.1:p.Thr963=
ENST00000699601.1:c.*1189C>A	ENSP00000514470.1:n.*1189C>A
ENST00000699602.1:c.2889C>A	ENSP00000514471.1:p.Thr963=
ENST00000699604.1:c.*2713C>A	ENSP00000514472.1:n.*2713C>A
ENST00000699605.1:c.2463C>A	ENSP00000514473.1:p.Thr821=
ENST00000687278.1:c.480C>A	ENSP00000509593.1:p.Thr160=
ENST00000003084.11:c.2889C>A MANE Select	ENSP00000003084.6:p.Thr963=
ENST00000647720.1:c.539C>A
ENST00000648260.1:c.1671C>A	ENSP00000497957.1:p.Thr557=
ENST00000649406.1:c.2706C>A	ENSP00000497965.1:p.Thr902=
ENST00000649781.1:c.2706C>A	ENSP00000497203.1:p.Thr902=
ENST00000003084.10:c.2889C>A	ENSP00000003084.6:p.Thr963=
ENST00000426809.5:c.2799C>A	ENSP00000389119.1:p.Thr933=
NM_000492.3:c.2889C>A , LRG_663t1:c.2889C>A	NP_000483.3:p.Thr963=
XM_011515751.1:c.2979C>A	XP_011514053.1:p.Thr993=
XM_011515752.1:c.2979C>A	XP_011514054.1:p.Thr993=
XM_011515753.1:c.2646C>A	XP_011514055.1:p.Thr882=
XM_011515754.1:c.2646C>A	XP_011514056.1:p.Thr882=
NM_000492.4:c.2889C>A MANE Select	NP_000483.3:p.Thr963=