Canonical Allele Identifier: CA1737390066

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587756A= , CM000669.2:g.117587756A=	GRCh38
NC_000007.13:g.117227810A= , CM000669.1:g.117227810A=	GRCh37
NC_000007.12:g.117015046A=	NCBI36
NG_016465.4:g.126973A= , LRG_663:g.126973A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1602A=	ENSP00000497673.2:p.Ala534=
ENST00000647978.2:c.*1316A=	ENSP00000497658.1:n.*1316A=
ENST00000649781.2:c.1419A=	ENSP00000497203.1:p.Ala473=
ENST00000685018.2:c.1602A=	ENSP00000510194.2:p.Ala534=
ENST00000687278.2:c.1602A=	ENSP00000509593.2:p.Ala534=
ENST00000699585.1:c.1602A=	ENSP00000514456.1:p.Ala534=
ENST00000699598.1:c.1602A=	ENSP00000514467.1:p.Ala534=
ENST00000699599.1:c.1602A=	ENSP00000514468.1:p.Ala534=
ENST00000699600.1:c.1602A=	ENSP00000514469.1:p.Ala534=
ENST00000699601.1:c.1602A=	ENSP00000514470.1:p.Ala534=
ENST00000699602.1:c.1602A=	ENSP00000514471.1:p.Ala534=
ENST00000699604.1:c.*1426A=	ENSP00000514472.1:n.*1426A=
ENST00000699605.1:c.1176A=	ENSP00000514473.1:p.Ala392=
ENST00000003084.11:c.1602A= MANE Select	ENSP00000003084.6:p.Ala534=
ENST00000647978.1:c.*1316A=	ENSP00000497658.1:n.*1316A=
ENST00000648260.1:c.1402-15070A=	ENSP00000497957.1:n.1402-15070A=
ENST00000649406.1:c.1419A=	ENSP00000497965.1:p.Ala473=
ENST00000649781.1:c.1419A=	ENSP00000497203.1:p.Ala473=
ENST00000003084.10:c.1602A=	ENSP00000003084.6:p.Ala534=
ENST00000426809.5:c.1512A=	ENSP00000389119.1:p.Ala504=
NM_000492.3:c.1602A= , LRG_663t1:c.1602A=	NP_000483.3:p.Ala534=
XM_011515751.1:c.1692A=	XP_011514053.1:p.Ala564=
XM_011515752.1:c.1692A=	XP_011514054.1:p.Ala564=
XM_011515753.1:c.1359A=	XP_011514055.1:p.Ala453=
XM_011515754.1:c.1359A=	XP_011514056.1:p.Ala453=
NM_000492.4:c.1602A= MANE Select	NP_000483.3:p.Ala534=