Canonical Allele Identifier: CA1737343627
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479028G= , CM000669.2:g.117479028G= GRCh38
NC_000007.13:g.117119082G= , CM000669.1:g.117119082G= GRCh37
NC_000007.12:g.116906318G= NCBI36
NG_016465.4:g.18245G= , LRG_663:g.18245G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-216G= ENSP00000417012.1:n.-525-216G=
ENST00000673785.1:c.-406+13197G= ENSP00000501235.1:n.-406+13197G=
ENST00000546407.1:n.166+3220G=
XM_011515751.1:c.42-216G= XP_011514053.1:n.42-216G=
XM_011515752.1:c.42-216G= XP_011514054.1:n.42-216G=
XM_011515754.1:c.-1069G= XP_011514056.1:n.-1069G=