Canonical Allele Identifier: CA2777590992

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479585G>A , CM000669.2:g.117479585G>A	GRCh38
NC_000007.13:g.117119639G>A , CM000669.1:g.117119639G>A	GRCh37
NC_000007.12:g.116906875G>A	NCBI36
NG_016465.4:g.18802G>A , LRG_663:g.18802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-300G>A	ENSP00000417012.1:n.-300G>A
ENST00000673785.1:c.-406+13754G>A	ENSP00000501235.1:n.-406+13754G>A
ENST00000446805.1:c.-300G>A	ENSP00000417012.1:n.-300G>A
ENST00000546407.1:n.166+3777G>A
XM_011515751.1:c.143+240G>A	XP_011514053.1:n.143+240G>A
XM_011515752.1:c.143+240G>A	XP_011514054.1:n.143+240G>A
XM_011515753.1:c.-300G>A	XP_011514055.1:n.-300G>A
XM_011515754.1:c.-628G>A	XP_011514056.1:n.-628G>A