Canonical Allele Identifier: CA1737343446
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478841T= , CM000669.2:g.117478841T= GRCh38
NC_000007.13:g.117118895T= , CM000669.1:g.117118895T= GRCh37
NC_000007.12:g.116906131T= NCBI36
NG_016465.4:g.18058T= , LRG_663:g.18058T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-403T= ENSP00000417012.1:n.-525-403T=
ENST00000673785.1:c.-406+13010T= ENSP00000501235.1:n.-406+13010T=
ENST00000546407.1:n.166+3033T=
XM_011515751.1:c.42-403T= XP_011514053.1:n.42-403T=
XM_011515752.1:c.42-403T= XP_011514054.1:n.42-403T=
XM_011515754.1:c.-1256T= XP_011514056.1:n.-1256T=