Canonical Allele Identifier: CA1737344460

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479984C= , CM000669.2:g.117479984C=	GRCh38
NC_000007.13:g.117120038C= , CM000669.1:g.117120038C=	GRCh37
NC_000007.12:g.116907274C=	NCBI36
NG_016465.4:g.19201C= , LRG_663:g.19201C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+290C=	ENSP00000417012.1:n.-191+290C=
ENST00000673785.1:c.-406+14153C=	ENSP00000501235.1:n.-406+14153C=
ENST00000003084.10:c.-111C=	ENSP00000003084.6:n.-111C=
ENST00000446805.1:c.-191+290C=	ENSP00000417012.1:n.-191+290C=
ENST00000546407.1:n.166+4176C=
NM_000492.3:c.-111C= , LRG_663t1:c.-111C=	NP_000483.3:n.-111C=
XM_011515751.1:c.143+639C=	XP_011514053.1:n.143+639C=
XM_011515752.1:c.143+639C=	XP_011514054.1:n.143+639C=
XM_011515753.1:c.-191+290C=	XP_011514055.1:n.-191+290C=
XM_011515754.1:c.-518-164C=	XP_011514056.1:n.-518-164C=