Canonical Allele Identifier: CA2684616262
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479215C>A , CM000669.2:g.117479215C>A GRCh38
NC_000007.13:g.117119269C>A , CM000669.1:g.117119269C>A GRCh37
NC_000007.12:g.116906505C>A NCBI36
NG_016465.4:g.18432C>A , LRG_663:g.18432C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-29C>A ENSP00000417012.1:n.-525-29C>A
ENST00000673785.1:c.-406+13384C>A ENSP00000501235.1:n.-406+13384C>A
ENST00000546407.1:n.166+3407C>A
XM_011515751.1:c.42-29C>A XP_011514053.1:n.42-29C>A
XM_011515752.1:c.42-29C>A XP_011514054.1:n.42-29C>A
XM_011515754.1:c.-882C>A XP_011514056.1:n.-882C>A