Canonical Allele Identifier: CA1737344362

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479909C= , CM000669.2:g.117479909C=	GRCh38
NC_000007.13:g.117119963C= , CM000669.1:g.117119963C=	GRCh37
NC_000007.12:g.116907199C=	NCBI36
NG_016465.4:g.19126C= , LRG_663:g.19126C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-191+215C=	ENSP00000417012.1:n.-191+215C=
ENST00000673785.1:c.-406+14078C=	ENSP00000501235.1:n.-406+14078C=
ENST00000446805.1:c.-191+215C=	ENSP00000417012.1:n.-191+215C=
ENST00000546407.1:n.166+4101C=
XM_011515751.1:c.143+564C=	XP_011514053.1:n.143+564C=
XM_011515752.1:c.143+564C=	XP_011514054.1:n.143+564C=
XM_011515753.1:c.-191+215C=	XP_011514055.1:n.-191+215C=
XM_011515754.1:c.-519+215C=	XP_011514056.1:n.-519+215C=