Canonical Allele Identifier: CA1737343613
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479000T= , CM000669.2:g.117479000T= GRCh38
NC_000007.13:g.117119054T= , CM000669.1:g.117119054T= GRCh37
NC_000007.12:g.116906290T= NCBI36
NG_016465.4:g.18217T= , LRG_663:g.18217T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-244T= ENSP00000417012.1:n.-525-244T=
ENST00000673785.1:c.-406+13169T= ENSP00000501235.1:n.-406+13169T=
ENST00000546407.1:n.166+3192T=
XM_011515751.1:c.42-244T= XP_011514053.1:n.42-244T=
XM_011515752.1:c.42-244T= XP_011514054.1:n.42-244T=
XM_011515754.1:c.-1097T= XP_011514056.1:n.-1097T=