Canonical Allele Identifier: CA1737394845

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592298T= , CM000669.2:g.117592298T=	GRCh38
NC_000007.13:g.117232352T= , CM000669.1:g.117232352T=	GRCh37
NC_000007.12:g.117019588T=	NCBI36
NG_016465.4:g.131515T= , LRG_663:g.131515T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2131T=	ENSP00000497673.2:p.Phe711=
ENST00000647978.2:c.*1845T=	ENSP00000497658.1:n.*1845T=
ENST00000649781.2:c.1948T=	ENSP00000497203.1:p.Phe650=
ENST00000685018.2:c.2131T=	ENSP00000510194.2:p.Phe711=
ENST00000687278.2:c.2131T=	ENSP00000509593.2:p.Phe711=
ENST00000699585.1:c.2131T=	ENSP00000514456.1:p.Phe711=
ENST00000699598.1:c.2131T=	ENSP00000514467.1:p.Phe711=
ENST00000699599.1:c.2131T=	ENSP00000514468.1:p.Phe711=
ENST00000699600.1:c.2131T=	ENSP00000514469.1:p.Phe711=
ENST00000699601.1:c.*431T=	ENSP00000514470.1:n.*431T=
ENST00000699602.1:c.2131T=	ENSP00000514471.1:p.Phe711=
ENST00000699604.1:c.*1955T=	ENSP00000514472.1:n.*1955T=
ENST00000699605.1:c.1705T=	ENSP00000514473.1:p.Phe569=
ENST00000003084.11:c.2131T= MANE Select	ENSP00000003084.6:p.Phe711=
ENST00000647978.1:c.*1845T=	ENSP00000497658.1:n.*1845T=
ENST00000648260.1:c.1402-10528T=	ENSP00000497957.1:n.1402-10528T=
ENST00000649406.1:c.1948T=	ENSP00000497965.1:p.Phe650=
ENST00000649781.1:c.1948T=	ENSP00000497203.1:p.Phe650=
ENST00000003084.10:c.2131T=	ENSP00000003084.6:p.Phe711=
ENST00000426809.5:c.2041T=	ENSP00000389119.1:p.Phe681=
NM_000492.3:c.2131T= , LRG_663t1:c.2131T=	NP_000483.3:p.Phe711=
XM_011515751.1:c.2221T=	XP_011514053.1:p.Phe741=
XM_011515752.1:c.2221T=	XP_011514054.1:p.Phe741=
XM_011515753.1:c.1888T=	XP_011514055.1:p.Phe630=
XM_011515754.1:c.1888T=	XP_011514056.1:p.Phe630=
NM_000492.4:c.2131T= MANE Select	NP_000483.3:p.Phe711=