Canonical Allele Identifier: CA1737362689

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117595000C= , CM000669.2:g.117595000C=	GRCh38
NC_000007.13:g.117235054C= , CM000669.1:g.117235054C=	GRCh37
NC_000007.12:g.117022290C=	NCBI36
NG_016465.4:g.134217C= , LRG_663:g.134217C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2561C=	ENSP00000497673.2:p.Thr854=
ENST00000647978.2:c.*2275C=	ENSP00000497658.1:n.*2275C=
ENST00000649781.2:c.2378C=	ENSP00000497203.1:p.Thr793=
ENST00000685018.2:c.2561C=	ENSP00000510194.2:p.Thr854=
ENST00000687278.2:c.2561C=	ENSP00000509593.2:p.Thr854=
ENST00000699585.1:c.2561C=	ENSP00000514456.1:p.Thr854=
ENST00000699598.1:c.2561C=	ENSP00000514467.1:p.Thr854=
ENST00000699599.1:c.2561C=	ENSP00000514468.1:p.Thr854=
ENST00000699600.1:c.2561C=	ENSP00000514469.1:p.Thr854=
ENST00000699601.1:c.*861C=	ENSP00000514470.1:n.*861C=
ENST00000699602.1:c.2561C=	ENSP00000514471.1:p.Thr854=
ENST00000699604.1:c.*2385C=	ENSP00000514472.1:n.*2385C=
ENST00000699605.1:c.2135C=	ENSP00000514473.1:p.Thr712=
ENST00000687278.1:c.152C=	ENSP00000509593.1:p.Thr51=
ENST00000003084.11:c.2561C= MANE Select	ENSP00000003084.6:p.Thr854=
ENST00000647720.1:c.211C=
ENST00000648260.1:c.1402-7826C=	ENSP00000497957.1:n.1402-7826C=
ENST00000649406.1:c.2378C=	ENSP00000497965.1:p.Thr793=
ENST00000649781.1:c.2378C=	ENSP00000497203.1:p.Thr793=
ENST00000003084.10:c.2561C=	ENSP00000003084.6:p.Thr854=
ENST00000426809.5:c.2471C=	ENSP00000389119.1:p.Thr824=
NM_000492.3:c.2561C= , LRG_663t1:c.2561C=	NP_000483.3:p.Thr854=
XM_011515751.1:c.2651C=	XP_011514053.1:p.Thr884=
XM_011515752.1:c.2651C=	XP_011514054.1:p.Thr884=
XM_011515753.1:c.2318C=	XP_011514055.1:p.Thr773=
XM_011515754.1:c.2318C=	XP_011514056.1:p.Thr773=
NM_000492.4:c.2561C= MANE Select	NP_000483.3:p.Thr854=