Canonical Allele Identifier: CA1737423032

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665559T= , CM000669.2:g.117665559T=	GRCh38
NC_000007.13:g.117305613T= , CM000669.1:g.117305613T=	GRCh37
NC_000007.12:g.117092849T=	NCBI36
NG_016465.4:g.204776T= , LRG_663:g.204776T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*446T=	ENSP00000497673.2:n.*446T=
ENST00000647978.2:c.*3951T=	ENSP00000497658.1:n.*3951T=
ENST00000649781.2:c.4054T=	ENSP00000497203.1:p.Phe1352=
ENST00000685018.2:c.*450T=	ENSP00000510194.2:n.*450T=
ENST00000687278.2:c.*890T=	ENSP00000509593.2:n.*890T=
ENST00000699585.1:c.*446T=	ENSP00000514456.1:n.*446T=
ENST00000699598.1:c.4237T=	ENSP00000514467.1:p.Phe1413=
ENST00000699599.1:c.*450T=	ENSP00000514468.1:n.*450T=
ENST00000699600.1:c.*898T=	ENSP00000514469.1:n.*898T=
ENST00000699601.1:c.*2612T=	ENSP00000514470.1:n.*2612T=
ENST00000699602.1:c.4231T=	ENSP00000514471.1:p.Phe1411=
ENST00000699604.1:c.*4061T=	ENSP00000514472.1:n.*4061T=
ENST00000699605.1:c.3811T=	ENSP00000514473.1:p.Phe1271=
ENST00000699606.1:n.2405T=
ENST00000685018.1:c.1101T=	ENSP00000510194.1:n.1101T=
ENST00000687278.1:c.2024T=	ENSP00000509593.1:n.2024T=
ENST00000689011.1:c.819T=
ENST00000003084.11:c.4237T= MANE Select	ENSP00000003084.6:p.Phe1413=
ENST00000647720.1:c.1687T=
ENST00000649781.1:c.4054T=	ENSP00000497203.1:p.Phe1352=
ENST00000003084.10:c.4237T=	ENSP00000003084.6:p.Phe1413=
ENST00000426809.5:c.4147T=	ENSP00000389119.1:p.Phe1383=
ENST00000600166.1:c.363T=
NM_000492.3:c.4237T= , LRG_663t1:c.4237T=	NP_000483.3:p.Phe1413=
XM_011515751.1:c.4327T=	XP_011514053.1:p.Phe1443=
XM_011515752.1:c.4327T=	XP_011514054.1:p.Phe1443=
XM_011515753.1:c.3994T=	XP_011514055.1:p.Phe1332=
XM_011515754.1:c.3994T=	XP_011514056.1:p.Phe1332=
NM_000492.4:c.4237T= MANE Select	NP_000483.3:p.Phe1413=