Canonical Allele Identifier: CA1737422092

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664804T= , CM000669.2:g.117664804T=	GRCh38
NC_000007.13:g.117304858T= , CM000669.1:g.117304858T=	GRCh37
NC_000007.12:g.117092094T=	NCBI36
NG_016465.4:g.204021T= , LRG_663:g.204021T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*289T=	ENSP00000497673.2:n.*289T=
ENST00000647978.2:c.*3794T=	ENSP00000497658.1:n.*3794T=
ENST00000649781.2:c.3897T=	ENSP00000497203.1:p.Val1299=
ENST00000685018.2:c.*293T=	ENSP00000510194.2:n.*293T=
ENST00000687278.2:c.*733T=	ENSP00000509593.2:n.*733T=
ENST00000699585.1:c.*289T=	ENSP00000514456.1:n.*289T=
ENST00000699598.1:c.4080T=	ENSP00000514467.1:p.Val1360=
ENST00000699599.1:c.*293T=	ENSP00000514468.1:n.*293T=
ENST00000699600.1:c.*741T=	ENSP00000514469.1:n.*741T=
ENST00000699601.1:c.*2455T=	ENSP00000514470.1:n.*2455T=
ENST00000699602.1:c.4074T=	ENSP00000514471.1:p.Val1358=
ENST00000699604.1:c.*3904T=	ENSP00000514472.1:n.*3904T=
ENST00000699605.1:c.3654T=	ENSP00000514473.1:p.Val1218=
ENST00000699606.1:n.2248T=
ENST00000685018.1:c.944T=	ENSP00000510194.1:n.944T=
ENST00000687278.1:c.1867T=	ENSP00000509593.1:n.1867T=
ENST00000689011.1:c.662T=
ENST00000003084.11:c.4080T= MANE Select	ENSP00000003084.6:p.Val1360=
ENST00000647720.1:c.1530T=
ENST00000649781.1:c.3897T=	ENSP00000497203.1:p.Val1299=
ENST00000003084.10:c.4080T=	ENSP00000003084.6:p.Val1360=
ENST00000426809.5:c.3990T=	ENSP00000389119.1:p.Val1330=
ENST00000600166.1:c.206T=
NM_000492.3:c.4080T= , LRG_663t1:c.4080T=	NP_000483.3:p.Val1360=
XM_011515751.1:c.4170T=	XP_011514053.1:p.Val1390=
XM_011515752.1:c.4170T=	XP_011514054.1:p.Val1390=
XM_011515753.1:c.3837T=	XP_011514055.1:p.Val1279=
XM_011515754.1:c.3837T=	XP_011514056.1:p.Val1279=
NM_000492.4:c.4080T= MANE Select	NP_000483.3:p.Val1360=