Canonical Allele Identifier: CA2777590847

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117478752A>G , CM000669.2:g.117478752A>G	GRCh38
NC_000007.13:g.117118806A>G , CM000669.1:g.117118806A>G	GRCh37
NC_000007.12:g.116906042A>G	NCBI36
NG_016465.4:g.17969A>G , LRG_663:g.17969A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-526+330A>G	ENSP00000417012.1:n.-526+330A>G
ENST00000673785.1:c.-406+12921A>G	ENSP00000501235.1:n.-406+12921A>G
ENST00000546407.1:n.166+2944A>G
XM_011515751.1:c.41+330A>G	XP_011514053.1:n.41+330A>G
XM_011515752.1:c.41+330A>G	XP_011514054.1:n.41+330A>G
XM_011515754.1:c.-1345A>G	XP_011514056.1:n.-1345A>G