Canonical Allele Identifier: CA1737374962

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603646C= , CM000669.2:g.117603646C=	GRCh38
NC_000007.13:g.117243700C= , CM000669.1:g.117243700C=	GRCh37
NC_000007.12:g.117030936C=	NCBI36
NG_016465.4:g.142863C= , LRG_663:g.142863C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2772C=	ENSP00000497673.2:p.Asp924=
ENST00000647978.2:c.*2486C=	ENSP00000497658.1:n.*2486C=
ENST00000649781.2:c.2589C=	ENSP00000497203.1:p.Asp863=
ENST00000685018.2:c.2772C=	ENSP00000510194.2:p.Asp924=
ENST00000687278.2:c.2772C=	ENSP00000509593.2:p.Asp924=
ENST00000699585.1:c.2772C=	ENSP00000514456.1:p.Asp924=
ENST00000699598.1:c.2772C=	ENSP00000514467.1:p.Asp924=
ENST00000699599.1:c.2772C=	ENSP00000514468.1:p.Asp924=
ENST00000699600.1:c.2772C=	ENSP00000514469.1:p.Asp924=
ENST00000699601.1:c.*1072C=	ENSP00000514470.1:n.*1072C=
ENST00000699602.1:c.2772C=	ENSP00000514471.1:p.Asp924=
ENST00000699604.1:c.*2596C=	ENSP00000514472.1:n.*2596C=
ENST00000699605.1:c.2346C=	ENSP00000514473.1:p.Asp782=
ENST00000687278.1:c.363C=	ENSP00000509593.1:p.Asp121=
ENST00000003084.11:c.2772C= MANE Select	ENSP00000003084.6:p.Asp924=
ENST00000647720.1:c.422C=
ENST00000648260.1:c.1554C=	ENSP00000497957.1:p.Asp518=
ENST00000649406.1:c.2589C=	ENSP00000497965.1:p.Asp863=
ENST00000649781.1:c.2589C=	ENSP00000497203.1:p.Asp863=
ENST00000003084.10:c.2772C=	ENSP00000003084.6:p.Asp924=
ENST00000426809.5:c.2682C=	ENSP00000389119.1:p.Asp894=
NM_000492.3:c.2772C= , LRG_663t1:c.2772C=	NP_000483.3:p.Asp924=
XM_011515751.1:c.2862C=	XP_011514053.1:p.Asp954=
XM_011515752.1:c.2862C=	XP_011514054.1:p.Asp954=
XM_011515753.1:c.2529C=	XP_011514055.1:p.Asp843=
XM_011515754.1:c.2529C=	XP_011514056.1:p.Asp843=
NM_000492.4:c.2772C= MANE Select	NP_000483.3:p.Asp924=