Canonical Allele Identifier: CA1737408492

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668147A= , CM000669.2:g.117668147A=	GRCh38
NC_000007.13:g.117308201A= , CM000669.1:g.117308201A=	GRCh37
NC_000007.12:g.117095437A=	NCBI36
NG_016465.4:g.207364A= , LRG_663:g.207364A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*1691A=	ENSP00000497673.2:n.*1691A=
ENST00000647978.2:c.*5196A=	ENSP00000497658.1:n.*5196A=
ENST00000649781.2:c.*1039A=	ENSP00000497203.1:n.*1039A=
ENST00000685018.2:c.*1695A=	ENSP00000510194.2:n.*1695A=
ENST00000687278.2:c.*1052-332A=	ENSP00000509593.2:n.*1052-332A=
ENST00000699585.1:c.*1951A=	ENSP00000514456.1:n.*1951A=
ENST00000699598.1:c.*455-332A=	ENSP00000514467.1:n.*455-332A=
ENST00000699599.1:c.*962-332A=	ENSP00000514468.1:n.*962-332A=
ENST00000699600.1:c.*1060-332A=	ENSP00000514469.1:n.*1060-332A=
ENST00000699601.1:c.*3857A=	ENSP00000514470.1:n.*3857A=
ENST00000699602.1:c.*1039A=	ENSP00000514471.1:n.*1039A=
ENST00000699604.1:c.*5306A=	ENSP00000514472.1:n.*5306A=
ENST00000699605.1:c.*1039A=	ENSP00000514473.1:n.*1039A=
ENST00000699606.1:n.4993A=
ENST00000685018.1:c.2346A=	ENSP00000510194.1:n.2346A=
ENST00000687278.1:c.2186-332A=	ENSP00000509593.1:n.2186-332A=
ENST00000689011.1:c.2324A=
ENST00000003084.11:c.*1039A= MANE Select	ENSP00000003084.6:n.*1039A=
ENST00000647720.1:c.2932A=
ENST00000003084.10:c.*1039A=	ENSP00000003084.6:n.*1039A=
ENST00000600166.1:c.368+2583A=
NM_000492.3:c.*1039A= , LRG_663t1:c.*1039A=	NP_000483.3:n.*1039A=
XM_011515751.1:c.*1039A=	XP_011514053.1:n.*1039A=
XM_011515753.1:c.*1039A=	XP_011514055.1:n.*1039A=
XM_011515754.1:c.*1039A=	XP_011514056.1:n.*1039A=
NM_000492.4:c.*1039A= MANE Select	NP_000483.3:n.*1039A=