Canonical Allele Identifier: CA1737343399
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478779T= , CM000669.2:g.117478779T= GRCh38
NC_000007.13:g.117118833T= , CM000669.1:g.117118833T= GRCh37
NC_000007.12:g.116906069T= NCBI36
NG_016465.4:g.17996T= , LRG_663:g.17996T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-526+357T= ENSP00000417012.1:n.-526+357T=
ENST00000673785.1:c.-406+12948T= ENSP00000501235.1:n.-406+12948T=
ENST00000546407.1:n.166+2971T=
XM_011515751.1:c.41+357T= XP_011514053.1:n.41+357T=
XM_011515752.1:c.41+357T= XP_011514054.1:n.41+357T=
XM_011515754.1:c.-1318T= XP_011514056.1:n.-1318T=