Canonical Allele Identifier: CA1737408460

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668037C= , CM000669.2:g.117668037C=	GRCh38
NC_000007.13:g.117308091C= , CM000669.1:g.117308091C=	GRCh37
NC_000007.12:g.117095327C=	NCBI36
NG_016465.4:g.207254C= , LRG_663:g.207254C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*1581C=	ENSP00000497673.2:n.*1581C=
ENST00000647978.2:c.*5086C=	ENSP00000497658.1:n.*5086C=
ENST00000649781.2:c.*929C=	ENSP00000497203.1:n.*929C=
ENST00000685018.2:c.*1585C=	ENSP00000510194.2:n.*1585C=
ENST00000687278.2:c.*1051+280C=	ENSP00000509593.2:n.*1051+280C=
ENST00000699585.1:c.*1841C=	ENSP00000514456.1:n.*1841C=
ENST00000699598.1:c.*454+280C=	ENSP00000514467.1:n.*454+280C=
ENST00000699599.1:c.*961+280C=	ENSP00000514468.1:n.*961+280C=
ENST00000699600.1:c.*1059+280C=	ENSP00000514469.1:n.*1059+280C=
ENST00000699601.1:c.*3747C=	ENSP00000514470.1:n.*3747C=
ENST00000699602.1:c.*929C=	ENSP00000514471.1:n.*929C=
ENST00000699604.1:c.*5196C=	ENSP00000514472.1:n.*5196C=
ENST00000699605.1:c.*929C=	ENSP00000514473.1:n.*929C=
ENST00000699606.1:n.4883C=
ENST00000685018.1:c.2236C=	ENSP00000510194.1:n.2236C=
ENST00000687278.1:c.2185+280C=	ENSP00000509593.1:n.2185+280C=
ENST00000689011.1:c.2214C=
ENST00000003084.11:c.*929C= MANE Select	ENSP00000003084.6:n.*929C=
ENST00000647720.1:c.2822C=
ENST00000003084.10:c.*929C=	ENSP00000003084.6:n.*929C=
ENST00000600166.1:c.368+2473C=
NM_000492.3:c.*929C= , LRG_663t1:c.*929C=	NP_000483.3:n.*929C=
XM_011515751.1:c.*929C=	XP_011514053.1:n.*929C=
XM_011515753.1:c.*929C=	XP_011514055.1:n.*929C=
XM_011515754.1:c.*929C=	XP_011514056.1:n.*929C=
NM_000492.4:c.*929C= MANE Select	NP_000483.3:n.*929C=