Canonical Allele Identifier: CA1737379491

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606690A= , CM000669.2:g.117606690A=	GRCh38
NC_000007.13:g.117246744A= , CM000669.1:g.117246744A=	GRCh37
NC_000007.12:g.117033980A=	NCBI36
NG_016465.4:g.145907A= , LRG_663:g.145907A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2925A=	ENSP00000497673.2:p.Arg975=
ENST00000647978.2:c.*2639A=	ENSP00000497658.1:n.*2639A=
ENST00000649781.2:c.2742A=	ENSP00000497203.1:p.Arg914=
ENST00000685018.2:c.2925A=	ENSP00000510194.2:p.Arg975=
ENST00000687278.2:c.2925A=	ENSP00000509593.2:p.Arg975=
ENST00000699585.1:c.2925A=	ENSP00000514456.1:p.Arg975=
ENST00000699598.1:c.2925A=	ENSP00000514467.1:p.Arg975=
ENST00000699599.1:c.2925A=	ENSP00000514468.1:p.Arg975=
ENST00000699600.1:c.2925A=	ENSP00000514469.1:p.Arg975=
ENST00000699601.1:c.*1225A=	ENSP00000514470.1:n.*1225A=
ENST00000699602.1:c.2925A=	ENSP00000514471.1:p.Arg975=
ENST00000699604.1:c.*2749A=	ENSP00000514472.1:n.*2749A=
ENST00000699605.1:c.2499A=	ENSP00000514473.1:p.Arg833=
ENST00000687278.1:c.516A=	ENSP00000509593.1:p.Arg172=
ENST00000003084.11:c.2925A= MANE Select	ENSP00000003084.6:p.Arg975=
ENST00000647720.1:c.575A=
ENST00000648260.1:c.1707A=	ENSP00000497957.1:p.Arg569=
ENST00000649406.1:c.2742A=	ENSP00000497965.1:p.Arg914=
ENST00000649781.1:c.2742A=	ENSP00000497203.1:p.Arg914=
ENST00000003084.10:c.2925A=	ENSP00000003084.6:p.Arg975=
ENST00000426809.5:c.2835A=	ENSP00000389119.1:p.Arg945=
NM_000492.3:c.2925A= , LRG_663t1:c.2925A=	NP_000483.3:p.Arg975=
XM_011515751.1:c.3015A=	XP_011514053.1:p.Arg1005=
XM_011515752.1:c.3015A=	XP_011514054.1:p.Arg1005=
XM_011515753.1:c.2682A=	XP_011514055.1:p.Arg894=
XM_011515754.1:c.2682A=	XP_011514056.1:p.Arg894=
NM_000492.4:c.2925A= MANE Select	NP_000483.3:p.Arg975=