Canonical Allele Identifier: CA1737344360
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479908G= , CM000669.2:g.117479908G= GRCh38
NC_000007.13:g.117119962G= , CM000669.1:g.117119962G= GRCh37
NC_000007.12:g.116907198G= NCBI36
NG_016465.4:g.19125G= , LRG_663:g.19125G=

Transcript Alleles

HGVS Amino-acid change
ENST00000446805.2:c.-191+214G= ENSP00000417012.1:n.-191+214G=
ENST00000673785.1:c.-406+14077G= ENSP00000501235.1:n.-406+14077G=
ENST00000446805.1:c.-191+214G= ENSP00000417012.1:n.-191+214G=
ENST00000546407.1:n.166+4100G=
XM_011515751.1:c.143+563G= XP_011514053.1:n.143+563G=
XM_011515752.1:c.143+563G= XP_011514054.1:n.143+563G=
XM_011515753.1:c.-191+214G= XP_011514055.1:n.-191+214G=
XM_011515754.1:c.-519+214G= XP_011514056.1:n.-519+214G=