Canonical Allele Identifier: CA2777590869

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117478998C>G , CM000669.2:g.117478998C>G	GRCh38
NC_000007.13:g.117119052C>G , CM000669.1:g.117119052C>G	GRCh37
NC_000007.12:g.116906288C>G	NCBI36
NG_016465.4:g.18215C>G , LRG_663:g.18215C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-525-246C>G	ENSP00000417012.1:n.-525-246C>G
ENST00000673785.1:c.-406+13167C>G	ENSP00000501235.1:n.-406+13167C>G
ENST00000546407.1:n.166+3190C>G
XM_011515751.1:c.42-246C>G	XP_011514053.1:n.42-246C>G
XM_011515752.1:c.42-246C>G	XP_011514054.1:n.42-246C>G
XM_011515754.1:c.-1099C>G	XP_011514056.1:n.-1099C>G