Canonical Allele Identifier: CA1737392189

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590247G= , CM000669.2:g.117590247G=	GRCh38
NC_000007.13:g.117230301G= , CM000669.1:g.117230301G=	GRCh37
NC_000007.12:g.117017537G=	NCBI36
NG_016465.4:g.129464G= , LRG_663:g.129464G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1680-106G=	ENSP00000497673.2:n.1680-106G=
ENST00000647978.2:c.*1394-106G=	ENSP00000497658.1:n.*1394-106G=
ENST00000649781.2:c.1497-106G=	ENSP00000497203.1:n.1497-106G=
ENST00000685018.2:c.1680-106G=	ENSP00000510194.2:n.1680-106G=
ENST00000687278.2:c.1680-106G=	ENSP00000509593.2:n.1680-106G=
ENST00000699585.1:c.1680-106G=	ENSP00000514456.1:n.1680-106G=
ENST00000699598.1:c.1680-106G=	ENSP00000514467.1:n.1680-106G=
ENST00000699599.1:c.1680-106G=	ENSP00000514468.1:n.1680-106G=
ENST00000699600.1:c.1680-106G=	ENSP00000514469.1:n.1680-106G=
ENST00000699601.1:c.1680-111G=	ENSP00000514470.1:n.1680-111G=
ENST00000699602.1:c.1680-106G=	ENSP00000514471.1:n.1680-106G=
ENST00000699604.1:c.*1504-106G=	ENSP00000514472.1:n.*1504-106G=
ENST00000699605.1:c.1254-106G=	ENSP00000514473.1:n.1254-106G=
ENST00000003084.11:c.1680-106G= MANE Select	ENSP00000003084.6:n.1680-106G=
ENST00000647978.1:c.*1394-106G=	ENSP00000497658.1:n.*1394-106G=
ENST00000648260.1:c.1402-12579G=	ENSP00000497957.1:n.1402-12579G=
ENST00000649406.1:c.1497-106G=	ENSP00000497965.1:n.1497-106G=
ENST00000649781.1:c.1497-106G=	ENSP00000497203.1:n.1497-106G=
ENST00000003084.10:c.1680-106G=	ENSP00000003084.6:n.1680-106G=
ENST00000426809.5:c.1590-106G=	ENSP00000389119.1:n.1590-106G=
NM_000492.3:c.1680-106G= , LRG_663t1:c.1680-106G=	NP_000483.3:n.1680-106G=
XM_011515751.1:c.1770-106G=	XP_011514053.1:n.1770-106G=
XM_011515752.1:c.1770-106G=	XP_011514054.1:n.1770-106G=
XM_011515753.1:c.1437-106G=	XP_011514055.1:n.1437-106G=
XM_011515754.1:c.1437-106G=	XP_011514056.1:n.1437-106G=
NM_000492.4:c.1680-106G= MANE Select	NP_000483.3:n.1680-106G=