Canonical Allele Identifier: CA1737374907

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603639T= , CM000669.2:g.117603639T=	GRCh38
NC_000007.13:g.117243693T= , CM000669.1:g.117243693T=	GRCh37
NC_000007.12:g.117030929T=	NCBI36
NG_016465.4:g.142856T= , LRG_663:g.142856T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2765T=	ENSP00000497673.2:p.Val922=
ENST00000647978.2:c.*2479T=	ENSP00000497658.1:n.*2479T=
ENST00000649781.2:c.2582T=	ENSP00000497203.1:p.Val861=
ENST00000685018.2:c.2765T=	ENSP00000510194.2:p.Val922=
ENST00000687278.2:c.2765T=	ENSP00000509593.2:p.Val922=
ENST00000699585.1:c.2765T=	ENSP00000514456.1:p.Val922=
ENST00000699598.1:c.2765T=	ENSP00000514467.1:p.Val922=
ENST00000699599.1:c.2765T=	ENSP00000514468.1:p.Val922=
ENST00000699600.1:c.2765T=	ENSP00000514469.1:p.Val922=
ENST00000699601.1:c.*1065T=	ENSP00000514470.1:n.*1065T=
ENST00000699602.1:c.2765T=	ENSP00000514471.1:p.Val922=
ENST00000699604.1:c.*2589T=	ENSP00000514472.1:n.*2589T=
ENST00000699605.1:c.2339T=	ENSP00000514473.1:p.Val780=
ENST00000687278.1:c.356T=	ENSP00000509593.1:p.Val119=
ENST00000003084.11:c.2765T= MANE Select	ENSP00000003084.6:p.Val922=
ENST00000647720.1:c.415T=
ENST00000648260.1:c.1547T=	ENSP00000497957.1:p.Val516=
ENST00000649406.1:c.2582T=	ENSP00000497965.1:p.Val861=
ENST00000649781.1:c.2582T=	ENSP00000497203.1:p.Val861=
ENST00000003084.10:c.2765T=	ENSP00000003084.6:p.Val922=
ENST00000426809.5:c.2675T=	ENSP00000389119.1:p.Val892=
NM_000492.3:c.2765T= , LRG_663t1:c.2765T=	NP_000483.3:p.Val922=
XM_011515751.1:c.2855T=	XP_011514053.1:p.Val952=
XM_011515752.1:c.2855T=	XP_011514054.1:p.Val952=
XM_011515753.1:c.2522T=	XP_011514055.1:p.Val841=
XM_011515754.1:c.2522T=	XP_011514056.1:p.Val841=
NM_000492.4:c.2765T= MANE Select	NP_000483.3:p.Val922=