Canonical Allele Identifier: CA1737344141
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479726G= , CM000669.2:g.117479726G= GRCh38
NC_000007.13:g.117119780G= , CM000669.1:g.117119780G= GRCh37
NC_000007.12:g.116907016G= NCBI36
NG_016465.4:g.18943G= , LRG_663:g.18943G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-191+32G= ENSP00000417012.1:n.-191+32G=
ENST00000673785.1:c.-406+13895G= ENSP00000501235.1:n.-406+13895G=
ENST00000446805.1:c.-191+32G= ENSP00000417012.1:n.-191+32G=
ENST00000546407.1:n.166+3918G=
XM_011515751.1:c.143+381G= XP_011514053.1:n.143+381G=
XM_011515752.1:c.143+381G= XP_011514054.1:n.143+381G=
XM_011515753.1:c.-191+32G= XP_011514055.1:n.-191+32G=
XM_011515754.1:c.-519+32G= XP_011514056.1:n.-519+32G=