Canonical Allele Identifier: CA1737407798

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667126G= , CM000669.2:g.117667126G=	GRCh38
NC_000007.13:g.117307180G= , CM000669.1:g.117307180G=	GRCh37
NC_000007.12:g.117094416G=	NCBI36
NG_016465.4:g.206343G= , LRG_663:g.206343G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*670G=	ENSP00000497673.2:n.*670G=
ENST00000647978.2:c.*4175G=	ENSP00000497658.1:n.*4175G=
ENST00000649781.2:c.*18G=	ENSP00000497203.1:n.*18G=
ENST00000685018.2:c.*674G=	ENSP00000510194.2:n.*674G=
ENST00000687278.2:c.*896-476G=	ENSP00000509593.2:n.*896-476G=
ENST00000699585.1:c.*930G=	ENSP00000514456.1:n.*930G=
ENST00000699598.1:c.*167G=	ENSP00000514467.1:n.*167G=
ENST00000699599.1:c.*674G=	ENSP00000514468.1:n.*674G=
ENST00000699600.1:c.*904-476G=	ENSP00000514469.1:n.*904-476G=
ENST00000699601.1:c.*2836G=	ENSP00000514470.1:n.*2836G=
ENST00000699602.1:c.*18G=	ENSP00000514471.1:n.*18G=
ENST00000699604.1:c.*4285G=	ENSP00000514472.1:n.*4285G=
ENST00000699605.1:c.*18G=	ENSP00000514473.1:n.*18G=
ENST00000699606.1:n.3972G=
ENST00000685018.1:c.1325G=	ENSP00000510194.1:n.1325G=
ENST00000687278.1:c.2030-476G=	ENSP00000509593.1:n.2030-476G=
ENST00000689011.1:c.1303G=
ENST00000003084.11:c.*18G= MANE Select	ENSP00000003084.6:n.*18G=
ENST00000647720.1:c.1911G=
ENST00000003084.10:c.*18G=	ENSP00000003084.6:n.*18G=
ENST00000600166.1:c.368+1562G=
NM_000492.3:c.*18G= , LRG_663t1:c.*18G=	NP_000483.3:n.*18G=
XM_011515751.1:c.*18G=	XP_011514053.1:n.*18G=
XM_011515753.1:c.*18G=	XP_011514055.1:n.*18G=
XM_011515754.1:c.*18G=	XP_011514056.1:n.*18G=
NM_000492.4:c.*18G= MANE Select	NP_000483.3:n.*18G=