Canonical Allele Identifier: CA1737343638

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479051C= , CM000669.2:g.117479051C=	GRCh38
NC_000007.13:g.117119105C= , CM000669.1:g.117119105C=	GRCh37
NC_000007.12:g.116906341C=	NCBI36
NG_016465.4:g.18268C= , LRG_663:g.18268C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-525-193C=	ENSP00000417012.1:n.-525-193C=
ENST00000673785.1:c.-406+13220C=	ENSP00000501235.1:n.-406+13220C=
ENST00000546407.1:n.166+3243C=
XM_011515751.1:c.42-193C=	XP_011514053.1:n.42-193C=
XM_011515752.1:c.42-193C=	XP_011514054.1:n.42-193C=
XM_011515754.1:c.-1046C=	XP_011514056.1:n.-1046C=