Canonical Allele Identifier: CA2684616532
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479596C>A , CM000669.2:g.117479596C>A GRCh38
NC_000007.13:g.117119650C>A , CM000669.1:g.117119650C>A GRCh37
NC_000007.12:g.116906886C>A NCBI36
NG_016465.4:g.18813C>A , LRG_663:g.18813C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-289C>A ENSP00000417012.1:n.-289C>A
ENST00000673785.1:c.-406+13765C>A ENSP00000501235.1:n.-406+13765C>A
ENST00000446805.1:c.-289C>A ENSP00000417012.1:n.-289C>A
ENST00000546407.1:n.166+3788C>A
XM_011515751.1:c.143+251C>A XP_011514053.1:n.143+251C>A
XM_011515752.1:c.143+251C>A XP_011514054.1:n.143+251C>A
XM_011515753.1:c.-289C>A XP_011514055.1:n.-289C>A
XM_011515754.1:c.-617C>A XP_011514056.1:n.-617C>A