Canonical Allele Identifier: CA1737395023

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592381A= , CM000669.2:g.117592381A=	GRCh38
NC_000007.13:g.117232435A= , CM000669.1:g.117232435A=	GRCh37
NC_000007.12:g.117019671A=	NCBI36
NG_016465.4:g.131598A= , LRG_663:g.131598A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2214A=	ENSP00000497673.2:p.Leu738=
ENST00000647978.2:c.*1928A=	ENSP00000497658.1:n.*1928A=
ENST00000649781.2:c.2031A=	ENSP00000497203.1:p.Leu677=
ENST00000685018.2:c.2214A=	ENSP00000510194.2:p.Leu738=
ENST00000687278.2:c.2214A=	ENSP00000509593.2:p.Leu738=
ENST00000699585.1:c.2214A=	ENSP00000514456.1:p.Leu738=
ENST00000699598.1:c.2214A=	ENSP00000514467.1:p.Leu738=
ENST00000699599.1:c.2214A=	ENSP00000514468.1:p.Leu738=
ENST00000699600.1:c.2214A=	ENSP00000514469.1:p.Leu738=
ENST00000699601.1:c.*514A=	ENSP00000514470.1:n.*514A=
ENST00000699602.1:c.2214A=	ENSP00000514471.1:p.Leu738=
ENST00000699604.1:c.*2038A=	ENSP00000514472.1:n.*2038A=
ENST00000699605.1:c.1788A=	ENSP00000514473.1:p.Leu596=
ENST00000003084.11:c.2214A= MANE Select	ENSP00000003084.6:p.Leu738=
ENST00000647978.1:c.*1928A=	ENSP00000497658.1:n.*1928A=
ENST00000648260.1:c.1402-10445A=	ENSP00000497957.1:n.1402-10445A=
ENST00000649406.1:c.2031A=	ENSP00000497965.1:p.Leu677=
ENST00000649781.1:c.2031A=	ENSP00000497203.1:p.Leu677=
ENST00000003084.10:c.2214A=	ENSP00000003084.6:p.Leu738=
ENST00000426809.5:c.2124A=	ENSP00000389119.1:p.Leu708=
NM_000492.3:c.2214A= , LRG_663t1:c.2214A=	NP_000483.3:p.Leu738=
XM_011515751.1:c.2304A=	XP_011514053.1:p.Leu768=
XM_011515752.1:c.2304A=	XP_011514054.1:p.Leu768=
XM_011515753.1:c.1971A=	XP_011514055.1:p.Leu657=
XM_011515754.1:c.1971A=	XP_011514056.1:p.Leu657=
NM_000492.4:c.2214A= MANE Select	NP_000483.3:p.Leu738=