Canonical Allele Identifier: CA1737375451

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603740G= , CM000669.2:g.117603740G=	GRCh38
NC_000007.13:g.117243794G= , CM000669.1:g.117243794G=	GRCh37
NC_000007.12:g.117031030G=	NCBI36
NG_016465.4:g.142957G= , LRG_663:g.142957G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2866G=	ENSP00000497673.2:p.Val956=
ENST00000647978.2:c.*2580G=	ENSP00000497658.1:n.*2580G=
ENST00000649781.2:c.2683G=	ENSP00000497203.1:p.Val895=
ENST00000685018.2:c.2866G=	ENSP00000510194.2:p.Val956=
ENST00000687278.2:c.2866G=	ENSP00000509593.2:p.Val956=
ENST00000699585.1:c.2866G=	ENSP00000514456.1:p.Val956=
ENST00000699598.1:c.2866G=	ENSP00000514467.1:p.Val956=
ENST00000699599.1:c.2866G=	ENSP00000514468.1:p.Val956=
ENST00000699600.1:c.2866G=	ENSP00000514469.1:p.Val956=
ENST00000699601.1:c.*1166G=	ENSP00000514470.1:n.*1166G=
ENST00000699602.1:c.2866G=	ENSP00000514471.1:p.Val956=
ENST00000699604.1:c.*2690G=	ENSP00000514472.1:n.*2690G=
ENST00000699605.1:c.2440G=	ENSP00000514473.1:p.Val814=
ENST00000687278.1:c.457G=	ENSP00000509593.1:p.Val153=
ENST00000003084.11:c.2866G= MANE Select	ENSP00000003084.6:p.Val956=
ENST00000647720.1:c.516G=
ENST00000648260.1:c.1648G=	ENSP00000497957.1:p.Val550=
ENST00000649406.1:c.2683G=	ENSP00000497965.1:p.Val895=
ENST00000649781.1:c.2683G=	ENSP00000497203.1:p.Val895=
ENST00000003084.10:c.2866G=	ENSP00000003084.6:p.Val956=
ENST00000426809.5:c.2776G=	ENSP00000389119.1:p.Val926=
NM_000492.3:c.2866G= , LRG_663t1:c.2866G=	NP_000483.3:p.Val956=
XM_011515751.1:c.2956G=	XP_011514053.1:p.Val986=
XM_011515752.1:c.2956G=	XP_011514054.1:p.Val986=
XM_011515753.1:c.2623G=	XP_011514055.1:p.Val875=
XM_011515754.1:c.2623G=	XP_011514056.1:p.Val875=
NM_000492.4:c.2866G= MANE Select	NP_000483.3:p.Val956=