Canonical Allele Identifier: CA1737343635
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479047C= , CM000669.2:g.117479047C= GRCh38
NC_000007.13:g.117119101C= , CM000669.1:g.117119101C= GRCh37
NC_000007.12:g.116906337C= NCBI36
NG_016465.4:g.18264C= , LRG_663:g.18264C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-197C= ENSP00000417012.1:n.-525-197C=
ENST00000673785.1:c.-406+13216C= ENSP00000501235.1:n.-406+13216C=
ENST00000546407.1:n.166+3239C=
XM_011515751.1:c.42-197C= XP_011514053.1:n.42-197C=
XM_011515752.1:c.42-197C= XP_011514054.1:n.42-197C=
XM_011515754.1:c.-1050C= XP_011514056.1:n.-1050C=