Canonical Allele Identifier: CA1737386939

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611638G= , CM000669.2:g.117611638G=	GRCh38
NC_000007.13:g.117251692G= , CM000669.1:g.117251692G=	GRCh37
NC_000007.12:g.117038928G=	NCBI36
NG_016465.4:g.150855G= , LRG_663:g.150855G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3197G=	ENSP00000497673.2:p.Arg1066=
ENST00000647978.2:c.*2911G=	ENSP00000497658.1:n.*2911G=
ENST00000649781.2:c.3014G=	ENSP00000497203.1:p.Arg1005=
ENST00000685018.2:c.3197G=	ENSP00000510194.2:p.Arg1066=
ENST00000687278.2:c.3197G=	ENSP00000509593.2:p.Arg1066=
ENST00000699585.1:c.3197G=	ENSP00000514456.1:p.Arg1066=
ENST00000699598.1:c.3197G=	ENSP00000514467.1:p.Arg1066=
ENST00000699599.1:c.3197G=	ENSP00000514468.1:p.Arg1066=
ENST00000699600.1:c.3197G=	ENSP00000514469.1:p.Arg1066=
ENST00000699601.1:c.*1497G=	ENSP00000514470.1:n.*1497G=
ENST00000699602.1:c.3197G=	ENSP00000514471.1:p.Arg1066=
ENST00000699604.1:c.*3021G=	ENSP00000514472.1:n.*3021G=
ENST00000699605.1:c.2771G=	ENSP00000514473.1:p.Arg924=
ENST00000687278.1:c.788G=	ENSP00000509593.1:p.Arg263=
ENST00000003084.11:c.3197G= MANE Select	ENSP00000003084.6:p.Arg1066=
ENST00000647720.1:c.847G=
ENST00000648260.1:c.1979G=	ENSP00000497957.1:p.Arg660=
ENST00000649406.1:c.3014G=	ENSP00000497965.1:p.Arg1005=
ENST00000649781.1:c.3014G=	ENSP00000497203.1:p.Arg1005=
ENST00000003084.10:c.3197G=	ENSP00000003084.6:p.Arg1066=
ENST00000426809.5:c.3107G=	ENSP00000389119.1:p.Arg1036=
ENST00000468795.1:c.22G=
NM_000492.3:c.3197G= , LRG_663t1:c.3197G=	NP_000483.3:p.Arg1066=
XM_011515751.1:c.3287G=	XP_011514053.1:p.Arg1096=
XM_011515752.1:c.3287G=	XP_011514054.1:p.Arg1096=
XM_011515753.1:c.2954G=	XP_011514055.1:p.Arg985=
XM_011515754.1:c.2954G=	XP_011514056.1:p.Arg985=
NM_000492.4:c.3197G= MANE Select	NP_000483.3:p.Arg1066=