Canonical Allele Identifier: CA1737374515

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603563C= , CM000669.2:g.117603563C=	GRCh38
NC_000007.13:g.117243617C= , CM000669.1:g.117243617C=	GRCh37
NC_000007.12:g.117030853C=	NCBI36
NG_016465.4:g.142780C= , LRG_663:g.142780C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2689C=	ENSP00000497673.2:p.His897=
ENST00000647978.2:c.*2403C=	ENSP00000497658.1:n.*2403C=
ENST00000649781.2:c.2506C=	ENSP00000497203.1:p.His836=
ENST00000685018.2:c.2689C=	ENSP00000510194.2:p.His897=
ENST00000687278.2:c.2689C=	ENSP00000509593.2:p.His897=
ENST00000699585.1:c.2689C=	ENSP00000514456.1:p.His897=
ENST00000699598.1:c.2689C=	ENSP00000514467.1:p.His897=
ENST00000699599.1:c.2689C=	ENSP00000514468.1:p.His897=
ENST00000699600.1:c.2689C=	ENSP00000514469.1:p.His897=
ENST00000699601.1:c.*989C=	ENSP00000514470.1:n.*989C=
ENST00000699602.1:c.2689C=	ENSP00000514471.1:p.His897=
ENST00000699604.1:c.*2513C=	ENSP00000514472.1:n.*2513C=
ENST00000699605.1:c.2263C=	ENSP00000514473.1:p.His755=
ENST00000687278.1:c.280C=	ENSP00000509593.1:p.His94=
ENST00000003084.11:c.2689C= MANE Select	ENSP00000003084.6:p.His897=
ENST00000647720.1:c.339C=
ENST00000648260.1:c.1471C=	ENSP00000497957.1:p.His491=
ENST00000649406.1:c.2506C=	ENSP00000497965.1:p.His836=
ENST00000649781.1:c.2506C=	ENSP00000497203.1:p.His836=
ENST00000003084.10:c.2689C=	ENSP00000003084.6:p.His897=
ENST00000426809.5:c.2599C=	ENSP00000389119.1:p.His867=
NM_000492.3:c.2689C= , LRG_663t1:c.2689C=	NP_000483.3:p.His897=
XM_011515751.1:c.2779C=	XP_011514053.1:p.His927=
XM_011515752.1:c.2779C=	XP_011514054.1:p.His927=
XM_011515753.1:c.2446C=	XP_011514055.1:p.His816=
XM_011515754.1:c.2446C=	XP_011514056.1:p.His816=
NM_000492.4:c.2689C= MANE Select	NP_000483.3:p.His897=