Canonical Allele Identifier: CA1737344046

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479599C= , CM000669.2:g.117479599C=	GRCh38
NC_000007.13:g.117119653C= , CM000669.1:g.117119653C=	GRCh37
NC_000007.12:g.116906889C=	NCBI36
NG_016465.4:g.18816C= , LRG_663:g.18816C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-286C=	ENSP00000417012.1:n.-286C=
ENST00000673785.1:c.-406+13768C=	ENSP00000501235.1:n.-406+13768C=
ENST00000446805.1:c.-286C=	ENSP00000417012.1:n.-286C=
ENST00000546407.1:n.166+3791C=
XM_011515751.1:c.143+254C=	XP_011514053.1:n.143+254C=
XM_011515752.1:c.143+254C=	XP_011514054.1:n.143+254C=
XM_011515753.1:c.-286C=	XP_011514055.1:n.-286C=
XM_011515754.1:c.-614C=	XP_011514056.1:n.-614C=