Canonical Allele Identifier: CA1737343327
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478690G= , CM000669.2:g.117478690G= GRCh38
NC_000007.13:g.117118744G= , CM000669.1:g.117118744G= GRCh37
NC_000007.12:g.116905980G= NCBI36
NG_016465.4:g.17907G= , LRG_663:g.17907G=

Transcript Alleles

HGVS Amino-acid change
ENST00000446805.2:c.-526+268G= ENSP00000417012.1:n.-526+268G=
ENST00000673785.1:c.-406+12859G= ENSP00000501235.1:n.-406+12859G=
ENST00000546407.1:n.166+2882G=
XM_011515751.1:c.41+268G= XP_011514053.1:n.41+268G=
XM_011515752.1:c.41+268G= XP_011514054.1:n.41+268G=