Canonical Allele Identifier: CA1737375635

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603782G= , CM000669.2:g.117603782G=	GRCh38
NC_000007.13:g.117243836G= , CM000669.1:g.117243836G=	GRCh37
NC_000007.12:g.117031072G=	NCBI36
NG_016465.4:g.142999G= , LRG_663:g.142999G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2908G=	ENSP00000497673.2:p.Gly970=
ENST00000647978.2:c.*2622G=	ENSP00000497658.1:n.*2622G=
ENST00000649781.2:c.2725G=	ENSP00000497203.1:p.Gly909=
ENST00000685018.2:c.2908G=	ENSP00000510194.2:p.Gly970=
ENST00000687278.2:c.2908G=	ENSP00000509593.2:p.Gly970=
ENST00000699585.1:c.2908G=	ENSP00000514456.1:p.Gly970=
ENST00000699598.1:c.2908G=	ENSP00000514467.1:p.Gly970=
ENST00000699599.1:c.2908G=	ENSP00000514468.1:p.Gly970=
ENST00000699600.1:c.2908G=	ENSP00000514469.1:p.Gly970=
ENST00000699601.1:c.*1208G=	ENSP00000514470.1:n.*1208G=
ENST00000699602.1:c.2908G=	ENSP00000514471.1:p.Gly970=
ENST00000699604.1:c.*2732G=	ENSP00000514472.1:n.*2732G=
ENST00000699605.1:c.2482G=	ENSP00000514473.1:p.Gly828=
ENST00000687278.1:c.499G=	ENSP00000509593.1:p.Gly167=
ENST00000003084.11:c.2908G= MANE Select	ENSP00000003084.6:p.Gly970=
ENST00000647720.1:c.558G=
ENST00000648260.1:c.1690G=	ENSP00000497957.1:p.Gly564=
ENST00000649406.1:c.2725G=	ENSP00000497965.1:p.Gly909=
ENST00000649781.1:c.2725G=	ENSP00000497203.1:p.Gly909=
ENST00000003084.10:c.2908G=	ENSP00000003084.6:p.Gly970=
ENST00000426809.5:c.2818G=	ENSP00000389119.1:p.Gly940=
NM_000492.3:c.2908G= , LRG_663t1:c.2908G=	NP_000483.3:p.Gly970=
XM_011515751.1:c.2998G=	XP_011514053.1:p.Gly1000=
XM_011515752.1:c.2998G=	XP_011514054.1:p.Gly1000=
XM_011515753.1:c.2665G=	XP_011514055.1:p.Gly889=
XM_011515754.1:c.2665G=	XP_011514056.1:p.Gly889=
NM_000492.4:c.2908G= MANE Select	NP_000483.3:p.Gly970=