Canonical Allele Identifier: CA1737397758

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117594977G= , CM000669.2:g.117594977G=	GRCh38
NC_000007.13:g.117235031G= , CM000669.1:g.117235031G=	GRCh37
NC_000007.12:g.117022267G=	NCBI36
NG_016465.4:g.134194G= , LRG_663:g.134194G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.2538G= MANE Select	NP_000483.3:p.Trp846=
ENST00000003084.11:c.2538G= MANE Select	ENSP00000003084.6:p.Trp846=
NM_000492.3:c.2538G= , LRG_663t1:c.2538G=	NP_000483.3:p.Trp846=
ENST00000003084.10:c.2538G=	ENSP00000003084.6:p.Trp846=
ENST00000426809.5:c.2448G=	ENSP00000389119.1:p.Trp816=
ENST00000647720.1:c.188G=
ENST00000647720.2:c.2538G=	ENSP00000497673.2:p.Trp846=
ENST00000647978.1:c.*2252G=	ENSP00000497658.1:n.*2252G=
ENST00000647978.2:c.*2252G=	ENSP00000497658.1:n.*2252G=
ENST00000648260.1:c.1402-7849G=	ENSP00000497957.1:n.1402-7849G=
ENST00000649406.1:c.2355G=	ENSP00000497965.1:p.Trp785=
ENST00000649781.1:c.2355G=	ENSP00000497203.1:p.Trp785=
ENST00000649781.2:c.2355G=	ENSP00000497203.1:p.Trp785=
ENST00000685018.2:c.2538G=	ENSP00000510194.2:p.Trp846=
ENST00000687278.1:c.129G=	ENSP00000509593.1:p.Trp43=
ENST00000687278.2:c.2538G=	ENSP00000509593.2:p.Trp846=
ENST00000699585.1:c.2538G=	ENSP00000514456.1:p.Trp846=
ENST00000699598.1:c.2538G=	ENSP00000514467.1:p.Trp846=
ENST00000699599.1:c.2538G=	ENSP00000514468.1:p.Trp846=
ENST00000699600.1:c.2538G=	ENSP00000514469.1:p.Trp846=
ENST00000699601.1:c.*838G=	ENSP00000514470.1:n.*838G=
ENST00000699602.1:c.2538G=	ENSP00000514471.1:p.Trp846=
ENST00000699604.1:c.*2362G=	ENSP00000514472.1:n.*2362G=
ENST00000699605.1:c.2112G=	ENSP00000514473.1:p.Trp704=
XM_011515751.1:c.2628G=	XP_011514053.1:p.Trp876=
XM_011515752.1:c.2628G=	XP_011514054.1:p.Trp876=
XM_011515753.1:c.2295G=	XP_011514055.1:p.Trp765=
XM_011515754.1:c.2295G=	XP_011514056.1:p.Trp765=