Canonical Allele Identifier: CA832112141
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1334389905

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478806del , CM000669.2:g.117478806del GRCh38
NC_000007.13:g.117118860del , CM000669.1:g.117118860del GRCh37
NC_000007.12:g.116906096del NCBI36
NG_016465.4:g.18023del , LRG_663:g.18023del

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-526+384del ENSP00000417012.1:n.-526+384del
ENST00000673785.1:c.-406+12975del ENSP00000501235.1:n.-406+12975del
ENST00000546407.1:n.166+2998del
XM_011515751.1:c.41+384del XP_011514053.1:n.41+384del
XM_011515752.1:c.41+384del XP_011514054.1:n.41+384del
XM_011515754.1:c.-1291del XP_011514056.1:n.-1291del