Canonical Allele Identifier: CA1737344135

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479724G= , CM000669.2:g.117479724G=	GRCh38
NC_000007.13:g.117119778G= , CM000669.1:g.117119778G=	GRCh37
NC_000007.12:g.116907014G=	NCBI36
NG_016465.4:g.18941G= , LRG_663:g.18941G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+30G=	ENSP00000417012.1:n.-191+30G=
ENST00000673785.1:c.-406+13893G=	ENSP00000501235.1:n.-406+13893G=
ENST00000446805.1:c.-191+30G=	ENSP00000417012.1:n.-191+30G=
ENST00000546407.1:n.166+3916G=
XM_011515751.1:c.143+379G=	XP_011514053.1:n.143+379G=
XM_011515752.1:c.143+379G=	XP_011514054.1:n.143+379G=
XM_011515753.1:c.-191+30G=	XP_011514055.1:n.-191+30G=
XM_011515754.1:c.-519+30G=	XP_011514056.1:n.-519+30G=