Canonical Allele Identifier: CA1737344455

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479979C= , CM000669.2:g.117479979C=	GRCh38
NC_000007.13:g.117120033C= , CM000669.1:g.117120033C=	GRCh37
NC_000007.12:g.116907269C=	NCBI36
NG_016465.4:g.19196C= , LRG_663:g.19196C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+285C=	ENSP00000417012.1:n.-191+285C=
ENST00000673785.1:c.-406+14148C=	ENSP00000501235.1:n.-406+14148C=
ENST00000003084.10:c.-116C=	ENSP00000003084.6:n.-116C=
ENST00000446805.1:c.-191+285C=	ENSP00000417012.1:n.-191+285C=
ENST00000546407.1:n.166+4171C=
NM_000492.3:c.-116C= , LRG_663t1:c.-116C=	NP_000483.3:n.-116C=
XM_011515751.1:c.143+634C=	XP_011514053.1:n.143+634C=
XM_011515752.1:c.143+634C=	XP_011514054.1:n.143+634C=
XM_011515753.1:c.-191+285C=	XP_011514055.1:n.-191+285C=
XM_011515754.1:c.-518-169C=	XP_011514056.1:n.-518-169C=