Canonical Allele Identifier: CA1737343648
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479078G= , CM000669.2:g.117479078G= GRCh38
NC_000007.13:g.117119132G= , CM000669.1:g.117119132G= GRCh37
NC_000007.12:g.116906368G= NCBI36
NG_016465.4:g.18295G= , LRG_663:g.18295G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-166G= ENSP00000417012.1:n.-525-166G=
ENST00000673785.1:c.-406+13247G= ENSP00000501235.1:n.-406+13247G=
ENST00000546407.1:n.166+3270G=
XM_011515751.1:c.42-166G= XP_011514053.1:n.42-166G=
XM_011515752.1:c.42-166G= XP_011514054.1:n.42-166G=
XM_011515754.1:c.-1019G= XP_011514056.1:n.-1019G=