Canonical Allele Identifier: CA1737395774

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592649G= , CM000669.2:g.117592649G=	GRCh38
NC_000007.13:g.117232703G= , CM000669.1:g.117232703G=	GRCh37
NC_000007.12:g.117019939G=	NCBI36
NG_016465.4:g.131866G= , LRG_663:g.131866G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2482G=	ENSP00000497673.2:p.Asp828=
ENST00000647978.2:c.*2196G=	ENSP00000497658.1:n.*2196G=
ENST00000649781.2:c.2299G=	ENSP00000497203.1:p.Asp767=
ENST00000685018.2:c.2482G=	ENSP00000510194.2:p.Asp828=
ENST00000687278.2:c.2482G=	ENSP00000509593.2:p.Asp828=
ENST00000699585.1:c.2482G=	ENSP00000514456.1:p.Asp828=
ENST00000699598.1:c.2482G=	ENSP00000514467.1:p.Asp828=
ENST00000699599.1:c.2482G=	ENSP00000514468.1:p.Asp828=
ENST00000699600.1:c.2482G=	ENSP00000514469.1:p.Asp828=
ENST00000699601.1:c.*782G=	ENSP00000514470.1:n.*782G=
ENST00000699602.1:c.2482G=	ENSP00000514471.1:p.Asp828=
ENST00000699604.1:c.*2306G=	ENSP00000514472.1:n.*2306G=
ENST00000699605.1:c.2056G=	ENSP00000514473.1:p.Asp686=
ENST00000687278.1:c.73G=	ENSP00000509593.1:p.Asp25=
ENST00000003084.11:c.2482G= MANE Select	ENSP00000003084.6:p.Asp828=
ENST00000647720.1:c.132G=
ENST00000647978.1:c.*2196G=	ENSP00000497658.1:n.*2196G=
ENST00000648260.1:c.1402-10177G=	ENSP00000497957.1:n.1402-10177G=
ENST00000649406.1:c.2299G=	ENSP00000497965.1:p.Asp767=
ENST00000649781.1:c.2299G=	ENSP00000497203.1:p.Asp767=
ENST00000003084.10:c.2482G=	ENSP00000003084.6:p.Asp828=
ENST00000426809.5:c.2392G=	ENSP00000389119.1:p.Asp798=
NM_000492.3:c.2482G= , LRG_663t1:c.2482G=	NP_000483.3:p.Asp828=
XM_011515751.1:c.2572G=	XP_011514053.1:p.Asp858=
XM_011515752.1:c.2572G=	XP_011514054.1:p.Asp858=
XM_011515753.1:c.2239G=	XP_011514055.1:p.Asp747=
XM_011515754.1:c.2239G=	XP_011514056.1:p.Asp747=
NM_000492.4:c.2482G= MANE Select	NP_000483.3:p.Asp828=