Canonical Allele Identifier: CA1737344382
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479923A= , CM000669.2:g.117479923A= GRCh38
NC_000007.13:g.117119977A= , CM000669.1:g.117119977A= GRCh37
NC_000007.12:g.116907213A= NCBI36
NG_016465.4:g.19140A= , LRG_663:g.19140A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-191+229A= ENSP00000417012.1:n.-191+229A=
ENST00000673785.1:c.-406+14092A= ENSP00000501235.1:n.-406+14092A=
ENST00000446805.1:c.-191+229A= ENSP00000417012.1:n.-191+229A=
ENST00000546407.1:n.166+4115A=
XM_011515751.1:c.143+578A= XP_011514053.1:n.143+578A=
XM_011515752.1:c.143+578A= XP_011514054.1:n.143+578A=
XM_011515753.1:c.-191+229A= XP_011514055.1:n.-191+229A=
XM_011515754.1:c.-518-225A= XP_011514056.1:n.-518-225A=