Canonical Allele Identifier: CA1737343740

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479251C= , CM000669.2:g.117479251C=	GRCh38
NC_000007.13:g.117119305C= , CM000669.1:g.117119305C=	GRCh37
NC_000007.12:g.116906541C=	NCBI36
NG_016465.4:g.18468C= , LRG_663:g.18468C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-518C=	ENSP00000417012.1:n.-518C=
ENST00000673785.1:c.-406+13420C=	ENSP00000501235.1:n.-406+13420C=
ENST00000546407.1:n.166+3443C=
XM_011515751.1:c.49C=	XP_011514053.1:p.Pro17=
XM_011515752.1:c.49C=	XP_011514054.1:p.Pro17=
XM_011515754.1:c.-846C=	XP_011514056.1:n.-846C=