Canonical Allele Identifier: CA1737344416

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479951G= , CM000669.2:g.117479951G=	GRCh38
NC_000007.13:g.117120005G= , CM000669.1:g.117120005G=	GRCh37
NC_000007.12:g.116907241G=	NCBI36
NG_016465.4:g.19168G= , LRG_663:g.19168G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+257G=	ENSP00000417012.1:n.-191+257G=
ENST00000673785.1:c.-406+14120G=	ENSP00000501235.1:n.-406+14120G=
ENST00000446805.1:c.-191+257G=	ENSP00000417012.1:n.-191+257G=
ENST00000546407.1:n.166+4143G=
XM_011515751.1:c.143+606G=	XP_011514053.1:n.143+606G=
XM_011515752.1:c.143+606G=	XP_011514054.1:n.143+606G=
XM_011515753.1:c.-191+257G=	XP_011514055.1:n.-191+257G=
XM_011515754.1:c.-518-197G=	XP_011514056.1:n.-518-197G=