Canonical Allele Identifier: CA1737343582
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478975T= , CM000669.2:g.117478975T= GRCh38
NC_000007.13:g.117119029T= , CM000669.1:g.117119029T= GRCh37
NC_000007.12:g.116906265T= NCBI36
NG_016465.4:g.18192T= , LRG_663:g.18192T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-269T= ENSP00000417012.1:n.-525-269T=
ENST00000673785.1:c.-406+13144T= ENSP00000501235.1:n.-406+13144T=
ENST00000546407.1:n.166+3167T=
XM_011515751.1:c.42-269T= XP_011514053.1:n.42-269T=
XM_011515752.1:c.42-269T= XP_011514054.1:n.42-269T=
XM_011515754.1:c.-1122T= XP_011514056.1:n.-1122T=