Canonical Allele Identifier: CA1737408468

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668073T= , CM000669.2:g.117668073T=	GRCh38
NC_000007.13:g.117308127T= , CM000669.1:g.117308127T=	GRCh37
NC_000007.12:g.117095363T=	NCBI36
NG_016465.4:g.207290T= , LRG_663:g.207290T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*1617T=	ENSP00000497673.2:n.*1617T=
ENST00000647978.2:c.*5122T=	ENSP00000497658.1:n.*5122T=
ENST00000649781.2:c.*965T=	ENSP00000497203.1:n.*965T=
ENST00000685018.2:c.*1621T=	ENSP00000510194.2:n.*1621T=
ENST00000687278.2:c.*1051+316T=	ENSP00000509593.2:n.*1051+316T=
ENST00000699585.1:c.*1877T=	ENSP00000514456.1:n.*1877T=
ENST00000699598.1:c.*454+316T=	ENSP00000514467.1:n.*454+316T=
ENST00000699599.1:c.*961+316T=	ENSP00000514468.1:n.*961+316T=
ENST00000699600.1:c.*1059+316T=	ENSP00000514469.1:n.*1059+316T=
ENST00000699601.1:c.*3783T=	ENSP00000514470.1:n.*3783T=
ENST00000699602.1:c.*965T=	ENSP00000514471.1:n.*965T=
ENST00000699604.1:c.*5232T=	ENSP00000514472.1:n.*5232T=
ENST00000699605.1:c.*965T=	ENSP00000514473.1:n.*965T=
ENST00000699606.1:n.4919T=
ENST00000685018.1:c.2272T=	ENSP00000510194.1:n.2272T=
ENST00000687278.1:c.2185+316T=	ENSP00000509593.1:n.2185+316T=
ENST00000689011.1:c.2250T=
ENST00000003084.11:c.*965T= MANE Select	ENSP00000003084.6:n.*965T=
ENST00000647720.1:c.2858T=
ENST00000003084.10:c.*965T=	ENSP00000003084.6:n.*965T=
ENST00000600166.1:c.368+2509T=
NM_000492.3:c.*965T= , LRG_663t1:c.*965T=	NP_000483.3:n.*965T=
XM_011515751.1:c.*965T=	XP_011514053.1:n.*965T=
XM_011515753.1:c.*965T=	XP_011514055.1:n.*965T=
XM_011515754.1:c.*965T=	XP_011514056.1:n.*965T=
NM_000492.4:c.*965T= MANE Select	NP_000483.3:n.*965T=