Canonical Allele Identifier: CA2777590931

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479297A>G , CM000669.2:g.117479297A>G	GRCh38
NC_000007.13:g.117119351A>G , CM000669.1:g.117119351A>G	GRCh37
NC_000007.12:g.116906587A>G	NCBI36
NG_016465.4:g.18514A>G , LRG_663:g.18514A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-472A>G	ENSP00000417012.1:n.-472A>G
ENST00000673785.1:c.-406+13466A>G	ENSP00000501235.1:n.-406+13466A>G
ENST00000546407.1:n.166+3489A>G
XM_011515751.1:c.95A>G	XP_011514053.1:p.Lys32Arg
XM_011515752.1:c.95A>G	XP_011514054.1:p.Lys32Arg
XM_011515754.1:c.-800A>G	XP_011514056.1:n.-800A>G