Canonical Allele Identifier: CA1737343326
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478680T= , CM000669.2:g.117478680T= GRCh38
NC_000007.13:g.117118734T= , CM000669.1:g.117118734T= GRCh37
NC_000007.12:g.116905970T= NCBI36
NG_016465.4:g.17897T= , LRG_663:g.17897T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-526+258T= ENSP00000417012.1:n.-526+258T=
ENST00000673785.1:c.-406+12849T= ENSP00000501235.1:n.-406+12849T=
ENST00000546407.1:n.166+2872T=
XM_011515751.1:c.41+258T= XP_011514053.1:n.41+258T=
XM_011515752.1:c.41+258T= XP_011514054.1:n.41+258T=