Canonical Allele Identifier: CA1737343622
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479024G= , CM000669.2:g.117479024G= GRCh38
NC_000007.13:g.117119078G= , CM000669.1:g.117119078G= GRCh37
NC_000007.12:g.116906314G= NCBI36
NG_016465.4:g.18241G= , LRG_663:g.18241G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-220G= ENSP00000417012.1:n.-525-220G=
ENST00000673785.1:c.-406+13193G= ENSP00000501235.1:n.-406+13193G=
ENST00000546407.1:n.166+3216G=
XM_011515751.1:c.42-220G= XP_011514053.1:n.42-220G=
XM_011515752.1:c.42-220G= XP_011514054.1:n.42-220G=
XM_011515754.1:c.-1073G= XP_011514056.1:n.-1073G=