Canonical Allele Identifier: CA1737343956
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479494G= , CM000669.2:g.117479494G= GRCh38
NC_000007.13:g.117119548G= , CM000669.1:g.117119548G= GRCh37
NC_000007.12:g.116906784G= NCBI36
NG_016465.4:g.18711G= , LRG_663:g.18711G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-391G= ENSP00000417012.1:n.-391G=
ENST00000673785.1:c.-406+13663G= ENSP00000501235.1:n.-406+13663G=
ENST00000446805.1:c.-391G= ENSP00000417012.1:n.-391G=
ENST00000546407.1:n.166+3686G=
XM_011515751.1:c.143+149G= XP_011514053.1:n.143+149G=
XM_011515752.1:c.143+149G= XP_011514054.1:n.143+149G=
XM_011515753.1:c.-391G= XP_011514055.1:n.-391G=
XM_011515754.1:c.-719G= XP_011514056.1:n.-719G=