Canonical Allele Identifier: CA1737343334
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478702G= , CM000669.2:g.117478702G= GRCh38
NC_000007.13:g.117118756G= , CM000669.1:g.117118756G= GRCh37
NC_000007.12:g.116905992G= NCBI36
NG_016465.4:g.17919G= , LRG_663:g.17919G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-526+280G= ENSP00000417012.1:n.-526+280G=
ENST00000673785.1:c.-406+12871G= ENSP00000501235.1:n.-406+12871G=
ENST00000546407.1:n.166+2894G=
XM_011515751.1:c.41+280G= XP_011514053.1:n.41+280G=
XM_011515752.1:c.41+280G= XP_011514054.1:n.41+280G=