Canonical Allele Identifier: CA1737343410
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478795A= , CM000669.2:g.117478795A= GRCh38
NC_000007.13:g.117118849A= , CM000669.1:g.117118849A= GRCh37
NC_000007.12:g.116906085A= NCBI36
NG_016465.4:g.18012A= , LRG_663:g.18012A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-526+373A= ENSP00000417012.1:n.-526+373A=
ENST00000673785.1:c.-406+12964A= ENSP00000501235.1:n.-406+12964A=
ENST00000546407.1:n.166+2987A=
XM_011515751.1:c.41+373A= XP_011514053.1:n.41+373A=
XM_011515752.1:c.41+373A= XP_011514054.1:n.41+373A=
XM_011515754.1:c.-1302A= XP_011514056.1:n.-1302A=