Canonical Allele Identifier: CA1737343882
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479406T= , CM000669.2:g.117479406T= GRCh38
NC_000007.13:g.117119460T= , CM000669.1:g.117119460T= GRCh37
NC_000007.12:g.116906696T= NCBI36
NG_016465.4:g.18623T= , LRG_663:g.18623T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-423-56T= ENSP00000417012.1:n.-423-56T=
ENST00000673785.1:c.-406+13575T= ENSP00000501235.1:n.-406+13575T=
ENST00000446805.1:c.-423-56T= ENSP00000417012.1:n.-423-56T=
ENST00000546407.1:n.166+3598T=
XM_011515751.1:c.143+61T= XP_011514053.1:n.143+61T=
XM_011515752.1:c.143+61T= XP_011514054.1:n.143+61T=
XM_011515753.1:c.-423-56T= XP_011514055.1:n.-423-56T=
XM_011515754.1:c.-751-56T= XP_011514056.1:n.-751-56T=